Board and Staff

AXYS Board of Directors and staff members are dedicated to the mission of AXYS and to our X and Y variation community. While election to the board is an honor, members also have important legal and fiduciary responsibilities that require a commitment of time, skill and resources. The ideal board member is strongly committed to AXYS’s mission and vision, and has the interest, skills, and resources that will fuel the organization’s growth.

Officers

Ginnie Cover, Chair

Chair since 2024, Director since 2024

Contact Ginnie

Your name: Ginnie Cover

Your connection to AXYS: XXY, but have written about all variations

General location: Mid- Atlantic ( Washington DC metro area)

How long have you been with AXYS? Since 1995 (originally KS&A)

Brief professional bio: Ginnie worked throughout her career with children and adults with complex medical conditions and developmental disabilities. She holds an MSW from the University of Michigan. After her now adult son was prenatally diagnosed with 47,XXY, in the 1980’s, pre-internet, Ginnie became an advocate for those with X and Y chromosome variations, providing educational programs for families and for professionals who work with this population. In 2012, she published Living with Klinefelter Syndrome, Trisomy X, and 47,XYY, a widely read guidebook to X and Y chromosome variations. During the pandemic, she turned to fiction, completing a novel, Supplemental Needs, about a family coping with a prenatal diagnosis. Ginnie wrote this novel because disability in children is rarely portrayed in fiction, and certainly not where there is a prenatal diagnosis involved. She is a past Board member, and returned to the AXYS Board as Chair in 2024. Ginnie and her husband, who are the parents of two adult sons, live in the Washington, D.C., metro area.

Gail Decker, Vice Chair

Vice Chair since 2023, Director since 2017

Contact Gail

Your name: Gail Decker

Your connection to AXYS: I have a son with XXYY Syndrome

General location: New York

How long have you been with AXYS? I have been a board member since 2017 and part of the XXYY Project since 1998, which joined AXYS in 2015

Brief professional bio: I am retired from banking and management. I am a parent and advocate for individuals with ID/DD here in my local community.

Janine Walker, Treasurer

Treasurer since 2025, Director since 2025

Contact Janine

Your name: Janine Walker

Your connection to AXYS: 47,XXY

General location: Atlanta, GA

How long have you been with AXYS? I’m new to AXYS.

Brief professional bio: As Treasurer and Board Member of AXYS, I bring my background in finance, nonprofit service, and wellness to support the mission of raising awareness and providing critical resources for individuals and families affected by X and Y chromosome variations. I’m also a passionate advocate for mental health and disability inclusion, and I believe deeply in the power of education, support, and community to create lasting change. I’m honored to serve in this role and help ensure the organization’s impact is both meaningful and sustainable.

Jessica Grove, Secretary

Secretary since 2025, Director since 2024

Contact Jessica

Your name: Jessica Grove

Your connection to AXYS: 47,XXY – my son

General location: Maryland

How long have you been with AXYS? I’ve been on the board since April 2024, but a part of the community for a few years as an observer and receiver of information and resources.

Brief professional bio: Jessica Grove is the Chief Operating Officer for the national mental health organization, Give an Hour. As COO she oversees the day to day operations of the organization including finances, human resources, technology integration, data collection, impact reporting, program management, and more. Jess came to Give an Hour from the professional theater world where she spent many years as a professional Stage Manager and Production Manager at theatres in both North Carolina and Maryland. She considers herself a compassionate and dedicated self-starter. Jess is a graduate of the University of North Carolina at Chapel Hill. She and her husband have three children and are strong advocates for families in need of support for neurodiversity as well as for families built through adoption.

Directors

Dalene Basden

Director since 2020

Contact Dalene

Your name: Dalene Basden

Your connection to AXYS: Mother of 47,XXY guy

General location: Boston, MA (North Shore)

How long have you been with AXYS? Member of AXYS community for 25 years, current board member for about two years

Brief professional bio: Dalene Basden, CPSP is a Family Support Specialist serving Lynn since 1998. In 2012, she became the first Nationally Certified Parent Support Provider in the state of Massachusetts. As an African American parent of two sons, one identified with 47XXY, the other with mental health challenges, she experiences firsthand racial disparities in health care. Dalene’s response to this inequality earned her the Rebeka Lee Award from the Harvard School of Public Health. In 2007, Dalene earned her certification as a SEED (Seeking Educational Equity and Diversity) leader with the Wellesley Centers for Woman. She continues to use her personal experience and expertise as a platform to inform and enlighten others about social injustices. Dalene engages her community, particularly those affected by bias and racism, in conversations of race, culture and intolerance as part of her quest to educate and bring awareness to these issues.

Andrew Curry

Director since 2025

Andrew’s bio coming soon

Kirsten Dougherty

Director since 2025

Contact Kirsten

Your name: Kirsten Dougherty

Your connection to AXYS: XXYY

General location: Iowa

How long have you been with AXYS? 19 years with the XXYY Community and 10 years with the AXYS Community

Brief professional bio: Kirsten is a licensed pharmacist in the states of Iowa, Missouri, and Maryland. She is the Director of Pharmacy at Mahaska Health in Oskaloosa, Iowa. Working in many areas of pharmacy throughout her career, Kirsten found her passion in rural healthcare. She has held several leadership positions in pharmacy throughout the past 25 years. Kirsten and her husband, Sean, have 3 boys – Patrick (age 19 – XXYY), Scott (age 17), and Daniel (age 16). When their first child was born and diagnosed with XXYY at 2 weeks of age, Kirsten and Sean reached out to The XXYY Project for support. They have been an active member of the XXYY Community ever since. Kirsten’s “Why” behind becoming a board member is to give back to the communities that she has been a part of for the last 19 years. She truly believes that we are each other’s lifelines when it comes to raising children with X and Y chromosome variations.

Erynn Gordon

Director since 2024

Contact Erynn

Your name: Erynn Gordon

Your connection to AXYS: XYY

General location: New Jersey

How long have you been with AXYS? I’ve been a member of the AXYS community since 2021 and joined the board in 2024.

Brief professional bio: Erynn began working with the board in 2024. Her son was diagnosed with 47, XYY when he was 10 years old. Erynn is a genetic counselor by training and has been working in the genetics industry for the past 24 years. Erynn is passionate about patient advocacy and recognizes the challenges that parents face in first finding a diagnosis and then accessing information and is motivated to help AXYS support families. Erynn lives with her husband and two sons in New Jersey.

Tina Hanif

Director since 2025

Contact Tina

Your name: Tina Hanif

Your connection to AXYS: Mom to a child affected by a chromosomal variant

General location: Southeast US

How long have you been with AXYS? 20+ years

Brief professional bio: Tina brings a strong professional background in the financial field, where she has spent many years helping individuals and organizations manage resources with clarity and purpose. Her strategic mindset and practical experience contribute to her thoughtful leadership and dedication to sustainable growth within AXYS. As a mother of a child with a chromosomal variation, Tina has been on this journey for over 20 years. Her personal experience has shaped a deep passion for advocacy and connection, driving her to ensure that no family feels isolated when facing an X or Y chromosomal anamoly. Seven years ago, Tina founded and continues to lead a support group in Florida for adults affected by X and Y variation, parents and caregivers, creating a safe, welcoming space for families to share their stories, ask questions, and support one another. Her leadership in this group has empowered countless families and built lasting bonds in the community. As a board member, Tina combines professional insight with personal dedication to help guide AXYS’s mission and growth. She is proud to support the organization’s work as a trusted, inclusive and empowering resource for all those affected by X and Y variations.

Chijioke Ikomi, MD

Director since 2025

Chijioke’s bio coming soon

Andrea Millett

Director since 2019

Contact Andrea

Your name: Andrea Millett

Your connection to AXYS: Trisomy X

General location: Boston, Massachusetts

How long have you been with AXYS? I have been a volunteer for 11 years and a board member for 5 years.

Brief professional bio: Andrea is currently employed as a Registered Behavior Technician working in the field of Applied Behavior Analysis (ABA). She is passionate about connecting Trisomy X families together both through online and in person support groups. Andrea is dedicated to advocate for individuals with Trisomy X and to bring awareness. Sharing stories from the lived experience is an invaluable resource. Andrea lives with her husband Brian and their two cats named Oreo and Jade. Andrea and Brian enjoy traveling and also enjoy cooking new recipes with each other.

Pete Orrall

Director since 2025

Contact Pete

Your name: Pete Orrall

Your connection to AXYS: XXY

General location: Boston, Massachusetts

How long have you been with AXYS? Board member since 2025

Brief professional bio: Pete is a career IT professional and former EMT. As a human being with Autism, ADHD, and PTSD, Pete is a passionate neurodiversity advocate who uses personal experience and expertise to educate others and build equitable and scalable systems. Pete holds a Bachelor degree in Psychology and an MBA from Rivier College and a certificate in Design Thinking from Boston College. Through advocacy, Pete aims to build a better future for his son. Pete’s special interests are trail running and synthesizers. Pete enjoys spending time with his family, his dog Lucy, and his cat Luigi.

Melody Pancheri

Director since 2025

Contact Melody

Your name: Melody Pancheri

Your connection to AXYS: Trisomy X

General location: Central Indiana

How long have you been with AXYS? Less than a year

Brief professional bio: Melody was diagnosed with Trisomy X at a year old and has known about the genetic condition her whole life. For the last 10+ years, she has been an advocate of personal health for those with rare, chronic conditions. Melody has an eclectic background with professional experience as an actor and director, event planner (galas, conferences, silent auctions), and Instructional Designer where she uses storytelling to create learning solutions for non-profits, higher education, and corporate companies. Melody has many years of experience with non-profit work including leading and participating on non-profit boards (both National and within her community).

John Sloss

Director since 2020

Contact John

Your name: John Sloss

Your connection to AXYS: I have a son with XXYY syndrome

General location: I live near Ottawa, Ontario, Canada

How long have you been with AXYS? I have been an AXYS board of Directors member for 5 years and have been part of the XXYY Project volunteer team for 8 years.

Brief professional bio: I have been employed in the Radiopharmaceutical medical isotope industry as an Instrumentation technologist for 23 years with BWXT Medical and Nordion. We produce various radio-active cancer treatments which are used globally. I have also been active within my work place as a union/employer contract negotiator and Chief steward.

Staff

Lindsey Lind, Program Director

Contact Lindsey

Your name: Lindsey Lind

Your connection to AXYS: I have a son with 47,XYY Syndrome

General location: Eastern TN

How long have you been with AXYS? 1 year

Brief professional bio: I am a mom of three, two boys and a girl. My youngest has 47,XYY syndrome, Autism, and ADHD. I became a stay at home mom to assist with all his needs. Before staying at home I worked in accounting and have my bachelor and masters degree in accounting.

Rick Frith, Communications Manager

Communications Manager

Contact Rick

Sheryl Kelly, Executive Director Emerita

Executive Director Emerita

Contact Sheryl

Rick Frith2025-09-09T14:53:52-04:00

Prenatal Testing

Our Helpline (1‑267‑338‑4262 or helpline@genetic.org) volunteers and support parents give priority to providing information to expectant parents.

A non-invasive prenatal blood test (NIPT) on the mother only suggests a risk that the fetus has an extra X or Y chromosome. It is not a diagnosis. Follow up is needed.

Amniocentesis (a needle inserted into the uterus to draw out fluid-containing cells surrounding the fetus) and chorionic villus sampling (CVS, in which a small sample of the developing placenta is taken) can both show whether extra chromosomes are for certain present, and can serve as a definitive diagnosis.

After prenatal testing, it is always worthwhile to consult a genetic counselor. The National Society of Genetic Counselors have an online directory.

Watch this video on prenatal tests.

Children with X or Y variations are unlikely to have severe developmental disabilities. These genetic conditions tend to involve speech delay or learning disability, not profound delays that prevent independent living. Many families find that early intervention and special education services minimize the impact of the extra chromosome.

AXYS is pleased to provide you with the following letter written by a parent of a child with Klinefelter syndrome, but relevant to all parents of a child with an x or y variation:

I am writing this letter to parents who have received a prenatal diagnosis of sex chromosome aneuploidy (SCA), one or more extra X and/or Y chromosomes. First, I want to tell you that I have been in your shoes, having learned at 18 weeks pregnancy that I was carrying a boy with an extra X chromosome… Read entire letter

Prenatal Genetic Testing: Making an Informed Decision

Rick Frith2022-08-15T15:16:04-04:00

Frequently Asked Questions

47,XXY

What is 47,XXY?

47,XXY, also referred to as Klinefelter syndrome, is a common chromosomal disorder. Rather than the usual pattern of 46 chromosomes, with one X chromosome and one Y chromosome, there is an additional X chromosome, resulting in a genetic signature of 47,XXY. This happens when paired chromosomes fail to separate at the first or second stage of meiosis. The exact cause is unknown. The extra chromosome can come from either parent; there is little relation to either maternal or paternal age. An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy. 47,XXY, unlike most trisomy conditions, is highly survivable for the fetus and causes symptoms that vary greatly from one person to another. An extra or missing sex chromosome is called sex chromosome aneuploidy. This is a spectrum condition, so for some individuals, 47,XXY is mild and barely noticeable, while in others, there are more noticeable effects.

What are the symptoms of XXY?

It should be emphasized that most XXYs have some, but not all, of the symptoms of the condition, and that symptoms vary greatly from one individual to another. Klinefelter syndrome is a term to describe a bundle of symptoms often associated with 47,XXY. One of the most fundamental and prevalent symptoms of 47,XXY is hypogonadism. In XXYs, hypogonadism manifests as small, firm testes, infertility, and inadequate levels of testosterone. Hypogonadism can also lead to delayed or incomplete puberty, sparse facial and body hair, female pattern body-fat distribution, gynecomastia (breast development, long limbs and poor coordination. A small number of individuals may have a micro-penis, which can be partially corrected with testosterone therapy at “mini-puberty” as a toddler. Untreated, hypogonadism can also contribute to problems with concentration, mood swings and other emotional and behavioral difficulties. It can also lead to a number of other conditions, such as osteoporosis, that can be prevented with testosterone hormone replacement therapy (HRT).

Numerous other symptoms can be associated with 47, XXY and its related variations. Many individuals exhibit several of these, but each person is different. Other symptoms may include:

Pre Puberty		Post Puberty
Speech/Language Difficulties	Low muscle tone (hypotonia)	Gender identity issues
Autism Spectrum Disorders or Asperger’s Syndrome	Pervasive Developmental Disorders	Low testosterone levels
ADD/ADHD	Sensory Integration Problems	Stalled Puberty
Learning Disabilities	Impulse Control Difficulties	Autoimmune Disorders
Obsessive Compulsive Disorder	Poor Social Skills and Delayed Social Development	Infertility
Anxiety	Low Self Esteem	Osteoporosis
Depression	Immaturity	Ineffective coping strategies
Shyness	Taurodontism	Depression
Clinodactyly	Pectus excavatum	Diabetes
Radio-Ulnar Synostosis	Hypospadias	Difficulty with interpreting or reacting to social cues
Micro-Penis (Rare)	Torticolis	Difficulty with expressing emotions
Cryptorchidism	Low energy	Challenges with employment

How is 47,XXY diagnosed?

Because the condition is characterized by an extra chromosome, cells must be obtained, prepared and observed to count the extra chromosome. Generally, a specialized blood test called karyotyping (a karyotype), FISH (fluorescence in situ hybridization), or microarray analysis is performed to look for chromosomal differences.

Many people have test while pregnant. See the prenatal testing page on this website. https://genetic.org/im-pregnant-genetic-testing-questions/prenatal-testing/

What is the prevalence of 47,XXY?

Studies have found between 1 in 500 and 1 in 800 males are XXY. A large-scale genetic screening of over 40,000 newborns in Denver demonstrated a rate of approximately 1 per 600 male births. Longitudinal population studies in the Netherlands have confirmed these estimates. 47,XXY is more common than Down Syndrome. It is estimated that only 35% of all individuals with XXY are ever diagnosed, due in part to the subtle and varying physical and psychological symptoms, and in part to a lack of training in medical schools about sex chromosome aneuploidies and their diagnosis and treatment.

Are all XXYs infertile?

In general, yes, but with notable exceptions:

Individuals with XXY/XY mosaicism may produce enough viable sperm to be biological fathers without requiring infertility treatment.
Medical reproductive technology advances allow many XXYs to become biological fathers. Please download this AXYS Consensus Paper: Fertility Guidelines for Klinefelter Syndrome
Time is of the essence for those with XXY who are considering reproductive therapies. Hormone replacement therapy must be managed very carefully to avoid total suppression of sperm production, and the availability of viable sperm declines rapidly with age. Parents of adolescents are advised to explore fertility questions with a qualified fertility clinic soon after puberty.
Many XXYs become parents via adoption, donor sperm and other techniques commonly employed by other families who face fertility challenges

It’s also important to note that most people with XXY are capable of having a normal, satisfying sex life.

Will a child with XXY look any different than one with 46 chromosomes?

Babies born with 47,XXY rarely have any obvious physical differences, which is the reason that so few children are diagnosed soon after birth. However, a baby may have very low muscle tone (hypotonia), or (rarely) an extremely small penis (micro-penis) that may cause a pediatrician to suspect a genetic problem.

How does XXY affect children and adolescents?

Children with 47,XXY may be language-delayed and have poor muscle tone, leading to poor fine and gross motor skills. They may be shy and very hesitant about any new experiences, such as pre-school or trying new foods. They can seem immature by comparison with other children their age, and their limited verbal skills may contribute to difficulty in play situations.

Many children with XXY have poor impulse control and attention deficits, which may be diagnosed as attention deficit disorder or attention deficit hyperactivity disorder (ADD or ADHD). Children with XXY can be misdiagnosed with Asperger syndrome or pervasive developmental disorder. This is because many exhibit social skill deficits, poor verbal abilities, shyness to the point of avoiding eye contact, and rigidity and inflexibility in their play patterns (i.e. insisting on lining up all car and truck toys, and becoming upset when the toys are disturbed). They may have difficulty in interactions with other children and adults. 47,XXY is not an autism spectrum disorder, even though there appears to be significant overlap of symptoms.

Children who have XXY may need special supports in school, including the protections of an IEP or 504 Plan. They may also benefit from a teacher’s aide, protection from bullying and special accommodations such as “self-imposed time outs.” A developmental pediatrician or geneticist will often recognize the subtle physical signs of 47,XXY in a child initially diagnosed with learning disabilities, ADHD, and/or an autism spectrum disorder, leading to genetic testing and a more complete diagnosis. Small testes, a smaller-than-average penis, hypospadius (urethra located on the shaft of the penis) or chryptorchidism (undescended testicle) are included in these physical signs. Other signs include an arm span measure that is greater than the child’s height, and a significant acceleration in height percentile around the age of 6 or 7 years.

Another body disproportion that may be present is leg length (foot to waist) that exceeds head-to-seat measurement. They may have clinodactyly (slightly curved fifth finger), pectus excavatum (a depression in the chest over the sternum), radio-ulnar synostosis (inability to completely straighten the elbow joint), or taurodontism (relatively thin enamel on the tooth with a large, pulpy root area). For adolescents ages 13 or over, failure to begin puberty or to progress through puberty completely may alert the pediatrician to consider and test for 47,XXY.

Is early intervention effective in reducing developmental delay in children with 47,XXY?

Early intervention appears to be very effective in reducing delays in development of both motor skills and language. Children who are diagnosed prenatally or in infancy may begin receiving services within the first year if they show early delays in motor skill acquisition. For children who have not been diagnosed, families may be wrongly reassured that “He will catch up—boys are slower.” Children who are not meeting speech, motor and social developmental milestones on pediatric screening instruments need to be evaluated further by a developmental pediatrician or at a child development center. Parents are encouraged to insist on evaluation where development is progressing slowly because these children rarely “catch up” without intervention services.

What treatments are available for 47,XXY?

Many individuals with XXY benefit from supplemental testosterone.

In all infants there is an initial spike of testosterone called mini puberty that infants with 47,XXY may not experience. Research is being conducted to see if infants with 47, XXY benefit from testosterone supplementation, especially if the baby has a very small penis.

After the infancy spike in testosterone production, virtually no testosterone is produced again until the start of puberty at the age of 9 to 11.

Individuals from puberty onward often require supplemental testosterone because their bodies make insufficient hormone to help them develop male secondary sex characteristics such as facial hair, a deep voice, and male pattern muscle and fat distribution. Those who identify as another gender are encouraged to seek the guidance of an endocrinologist to mitigate the risks of low testosterone. Testosterone, however, does not correct infertility.

Testosterone may also be needed to help increase and maintain bone density at normal levels, to create sexual desire and capacity for erections, and to build muscle mass. Individuals whose testosterone levels are low may feel fatigued, anxious and depressed. Testosterone treatment is a very individualized therapy, so the doctor will monitor blood testosterone levels and the patient’s reports of well-being to adjust the dosage properly.

Children who are reaching adolescence should be evaluated by a pediatric endocrinologist who can determine when hormone therapy should begin. This is generally between the ages of 9 and 13, depending on bone development and blood tests. Watch these videos on the AXYS YouTube channel to learn more.

Many with 47,XXY benefit from occupational, physical and speech therapy as well as counseling and social skills training. Special education accommodations and teaching methods can help achieve academic success despite learning disabilities. An increasing number of colleges and vocational schools have instituted programs to help those with learning disabilities to obtain degrees and credentials necessary for careers. Parents are encouraged to explore the benefits and protections afforded by an IEP or 504 plan. Please see the Education and Schooling section of this website.

Watch these videos for more information

Androgen Therapy for Male Adolescents with Dr. Alan Rogol

Are there special concerns with 47,XXY adolescents and young adults regarding maturity and decision-making?

There is current research that indicates some individuals with 47,XXY may experience delayed maturation relative to brain development associated with executive decision-making. This may be more prevalent with individuals who are not diagnosed at an early age and do not receive testosterone hormone replacement therapy. Anecdotal reports indicate there may be a 5+ year delay between chronological age and maturational age for many of these individuals, which can be very difficult to diagnose or measure objectively. It is a well-known fact that teenagers in general can demonstrate very poor decision-making with respect to risk-taking behavior, suggesting that those with XXYs may benefit from strong guidance and careful parenting for longer periods (i.e., into their late teens and 20s) to prevent serious legal and social problems. For those with tall stature, society may be slow to recognize this immaturity and fail to make needed accommodations.

What is intersex?

AXYS celebrates the diversity of the human family; including sex and gender, skin color, ethnicity, religion, sexual orientation, gender identity, age, socioeconomic status, physical characteristics, and mental abilities. While the majority of individuals with 47,XXY we serve identify as male, a minority identifies as “intersex” or another gender. Many also consider themselves as “being XXY” rather than “having XXY.” Out of respect for these individuals, we have attempted to minimize gender references, and, where practical, we have called individuals XXYs and stated that they “are XXY.”

Are there health risks associated with 47,XXY?

Among the more common medical issues seen in XXYs are osteoporosis, a thinning of the bones making fractures more likely, and autoimmune disorders such as rheumatoid arthritis, lupus, and Type 1 diabetes. Particularly those who have not had testosterone supplementation may suffer from venous ulcers. Thyroid disorders are also more common than usual. Those with XXY are more likely to suffer from seizures. There is some suggestion they are also more likely to suffer from mood disorders, including depression and bipolar disorder, than the population as a whole, although this has not yet been studied rigorously enough to quantify.

Since most of those with XXY are never diagnosed, it is hard to determine how common health related conditions are in this population as a whole.

What is gynecomastia?

Gynecomastia is the development of breast tissue. In those with XXY, this is related to hypogonadism. Most males with XXY develop some gynecomastia in adolescence that resolves in the mid-teens. In some, the breast development is pronounced and becomes both embarrassing and uncomfortable. Approximately one-third continue to suffer from significant gynecomastia after adolescence. Many opt for surgery to remove the excess breast tissue and create a normal male chest profile. Gynecomastia slightly increases the risk of breast cancer from less than 1 % for the male population overall to 3.7%. All those with XXY should perform regular breast exams to detect any nodules. Mammograms are not medically indicated for individuals with XXY unless a physician orders one to check an unusual finding in a breast exam.

Do individuals with 47,XXY have any special talents?

There are no current systematic studies of unusual talents and skills in those with XXY. Anecdotal information from conferences and websites suggests they enjoy math, computers, chess, music and art, and that many excel in these areas professionally. Various magnetic resonance imaging (MRI) studies support this point. A large multi-year study of over 40 children at the National Institutes of Health showed that the volume of gray matter on the right side of the brain (the part controlling spatial abilities and computational skills), was larger for children with XXY than for control subjects. Those with XXY may use this strength to compensate for the slightly smaller than average volumes of the left half of their brains, which control language functions and social skills, and which may explain deficits in these areas.

When and how should I discuss XXY with my child?

With children who are diagnosed prenatally or as young children, it is best to begin short, simple explanations at about age 5 or 6. You can explain that every cell in the body has “messages” to tell the body how to grow, and that the extra X sends some extra messages that are difficult for the body to understand. This may also help explain the need for extra help in the resource room at school, or for medication to help with attention. Later, during visits to an endocrinologist, you can provide more detailed explanations about the need to take testosterone supplementation.

47,XXY should never be kept a secret. Your child may well sense when you are withholding. When it’s time to learn about sexuality and reproduction, you can introduce the issue of lowered fertility and the need for infertility treatment, donated sperm or adoption to create a family later in life.

Watch these videos from the AXYS YouTube channel on Disclosing the Diagnosis to learn more.

What does it mean to be mosaic?

Those who are mosaic have some cells with 47, XXY and others with a different genetic signature, such as XY. The term “mosaic” is used because the cells with different numbers of chromosomes “nest” together in a mosaic pattern, much like tiles on a floor or wall.

47,XYY

What is 47,XYY?

47,XYY is estimated to occur in 1 out of 1000 males. Rather than the usual male pattern of 46 chromosomes, with one X chromosome (from the egg) and one Y chromosome (from the sperm) there is an additional Y chromosome, resulting in a genetic signature of 47,XYY. This happens when paired chromosomes fail to separate during meiosis in creating a sperm with an extra Y chromosome, or after fertilization during mitosis, when the cells divide in the embryo. The exact cause is unknown.

An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy. 47,XYY rarely causes severe disability, and can have symptoms that vary greatly from one person to another. An extra or missing sex chromosome yields a syndrome called sex chromosome aneuploidy. A syndrome is a collection of symptoms and physical signs. In some individuals, the manifestations of 47,XYY are mild and barely noticeable while in others there are much more severe symptoms.

How is 47,XYY diagnosed?

Many people test while pregnant. See the prenatal testing page on this website. https://genetic.org/im-pregnant-genetic-testing-questions/prenatal-testing/

What is the prevalence of 47,XYY?

Large-scale genetic screening studies of newborns have been used to estimate a rate of approximately 1 per 1000 male births. However, it is estimated that only 12 percent of all males with 47,XYY are ever diagnosed, due in part to the subtle and varying physical and psychological symptoms, and in part to a lack of training in medical schools and other graduate programs about XYY diagnosis and treatment. Many are diagnosed prenatally.

What are the symptoms of 47,XYY?

It should be emphasized that most with 47,XYY have some, but not all, of the symptoms and that both symptoms and severity vary greatly from one individual to another. Most people with 47,XYY are completely unaware of the extra chromosome. On the other hand, up to 30% of children with 47,XYY will be diagnosed with autism spectrum disorder. They may also suffer from delayed speech as children and have continuing difficulties with verbal expression as adults. Hypotonia, or low muscle tone, and delay in achieving motor skill milestones such as walking independently or holding a crayon to color, may occur. While most with 47,XYY will have intelligence in the normal range, many have language-based and other learning disabilities. A small number will have mild intellectual disability. Other possible problems include social skill disabilities, immaturity, low self-esteem, ADHD, impulsivity, and anxiety or mood disorders. Many with 47,XYY are very tall, but this is not always the case. In adolescents, severe acne may be a problem.

What is mosaicism with respect to 47,XYY?

Not everyone has the exact sames genes in every cell of their body. Mosaicism with regards to XYY means that a person has cells in their body with 46 chromosomes, for instance, including one X and one Y chromosome, as well as a others with one X and two Y chromosomes. This genetic signature would be written as 46,XY/47,XYY. The term “mosaic” is used because the cells with different numbers of chromosomes “nest” together in a mosaic pattern, much like tiles on a floor or wall.

Are individuals with 47,XYY fertile and will the extra chromosome be passed on to offspring?

XYYs have normal fertility. The chances of passing the extra Y chromosome on to offspring is remote, although there are some reports. Those with 47,XYY may wish to speak with a genetic counselor when contemplating pregnancy.

Will a baby with 47,XYY look any different from one with 46 chromosomes?

Babies with 47,XYY rarely have any physical differences that are detectable, which is the reason that so few children are diagnosed soon after birth. However, a baby may have very low muscle tone (hypotonia) and later in the first year of life the parents or pediatrician may detect that they are slow to meet developmental milestones such as walking or babbling. At that point, delays could become cause for concern and a referral to early intervention.

How does 47,XYY affect children?

47,XYY is characterized by great variation in how symptoms may appear. Many will be language-delayed, and some will have poor fine and gross motor skills. Children with 47,XYY can seem immature by comparison with other children their age, and their more limited verbal skills may contribute to difficulty in play situations. Some children with 47,XYY have attention deficits which may be diagnosed as attention deficit disorder or attention deficit hyperactivity disorder (ADD or ADHD). They can also demonstrate rigidity and inflexibility in their play patterns as well as interactions with other children and adults. Up to 30% may be diagnosed with autism spectrum disorder or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) . About two-thirds of children with XYY will have language-based learning disabilities that require some special education services. They are also more likely than their peers to have anxiety or mood disorders.

A developmental pediatrician or geneticist may recognize the subtle physical signs of 47,XYY in a child initially diagnosed with learning disabilities, as well as language and motor skill delays, leading to genetic testing and a more complete diagnosis. Boys with 47,XYY are often significantly taller than siblings or peers, and may have physical signs such as an arm span measure that is greater than her height, or a significant acceleration in height percentile around the age of 6 or 7 years. Another body disproportion that may be present is leg length (foot to waist) that exceeds head to seat measurement.

Is early intervention effective in reducing developmental delay in XYY?

Early intervention appears to be very effective in reducing delays in development of both motor skills and language in those with 47,XYY. Children may begin receiving services within the first year if they show early delays in motor skill acquisition. Children who are not meeting speech, motor and social developmental milestones on pediatric screening instruments need to be evaluated further by a developmental pediatrician or a child development center.

What treatments are available for 47,XYY?

There are no specific treatments for 47,XYY, although if there are symptoms, various interventions are recommended. Speech and motor skill difficulties respond to therapy. Anxiety and mood disorders or ADHD can be treated with individual or family therapy, behavioral therapy, work with an occupational therapist, and sometimes, appropriate medication. Special education accommodations and teaching methods can help those with learning disabilities. An increasing number of colleges and vocational schools have instituted programs to help those with learning disabilities to obtain degrees and credentials necessary for careers.

Are there health risks associated with 47,XYY?

There are few health risks associated with 47,XYY, except for the tendency of very severe acne in adolescence that may cause scarring. Mood disorders, including depression and bipolar disorder, appear to be more common among those with 47,XYY than in the population as a whole, although this has not yet been studied rigorously enough to quantify. Occasionally, an adolescent or an adult with 47,XYY experiences testicular failure, but this is rare.

When and how should I tell my child about 47,XYY?

With young children, it is best to begin short, simple explanations at about age 5 or 6. You can explain that every cell in the body has “messages” to tell the body how to grow, and that some people have extra messages, which may help to explain the need for speech therapy or resource room. Later, you can provide more detailed explanations about the extra chromosome. 47,XYY should never be kept a secret even if it causes few symptoms; the child may sense there is something that his parent is withholding from him. Reassure your child that the condition is surprisingly common, and many kids have learning or other disabilities.

Watch these videos from the AXYS YouTube channel on Disclosing the Diagnosis to learn more.

47,XXX

What is Trisomy X?

Trisomy X, also known as 47,XXX, is estimated to occur in 1 out of 1000 females. Rather than the usual female pattern of 46 chromosomes with two X chromosomes, there is an additional X chromosome, resulting in a genetic signature of 47,XXX. The exact cause is unknown. The extra chromosome can come from either the egg or the sperm although in Trisomy X, it is more likely to be contributed by the egg. An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy. There is some relationship to advanced maternal age, although it is not nearly as strong as in Down syndrome, which is also a trisomy condition involving chromosome 21. Unlike most trisomy conditions, Trisomy X is highly survivable for the fetus and symptoms that vary greatly from one person to another.

How is Trisomy X (47,XXX) diagnosed?

Many people test while pregnant. See the prenatal testing page on this website. https://genetic.org/im-pregnant-genetic-testing-questions/prenatal-testing/

What is the prevalence of Trisomy X?

Large-scale genetic screening studies of newborns have been used to estimate a rate of approximately 1 per 1000 female births. However, it is estimated that only 15 percent of all females with Trisomy X are ever diagnosed, due in part to the subtle and varying symptoms.

It is becoming more common for doctors to suspect Trisomy X if a woman experiences early menopause. Pediatricians may order genetic testing when there are speech delays, learning disabilities or other developmental problems.

What are the symptoms of Trisomy X?

Symptoms vary greatly from one individual to another. Some may have delayed speech as children and have continuing difficulties with verbal expression as adults. Hypotonia, or low muscle tone, and delay in achieving motor skill milestones, such as walking independently or holding a crayon to color, may occur. Many have language-based and other learning disabilities. A small number will have mild intellectual disability. Those with Trisomy X report social skill disabilities, immaturity, low self-esteem, and anxiety or mood disorders. Many with Trisomy X are tall, but this is not always the case. for some, there can be premature ovarian failure leading to early menopause. Among the fairly subtle physical signs may be an epicanthal eye fold, or clinodactyly, a curved little finger. Occasionally, females with Trisomy X will also have more severe difficulties such as seizures or genitourinary malformations, and lung issues.

What is mosaicism with respect to Trisomy X?

A mosaic cell line means that a woman has one cell line with 46 chromosomes, for instance, including two X chromosomes, as well as a second cell line with a different number of X chromosomes, for instance three X chromosomes. This genetic signature would be written as 46,XX/47,XXX. The term “mosaic” is used because the cells with different numbers of chromosomes “nest” together in a mosaic pattern, much like tiles on a floor or wall. If a female has a large proportion of cells with the typical number of chromosomes, 46, her symptoms may be less marked than someone with non-mosaic Trisomy X. It is also possible to have mosaicism involving 48 and 49 chromosomes, as in 46,XX/47,XXX/48,XXXX. One concern in diagnosing Trisomy X is ruling out mosaicism with a Turner cell line, 45,X/47,XXX. If a woman with Trisomy X has mosaicism with a Turner cell line, she may be at risk of the cardiac and gynecologic anomalies that characterize Turner syndrome.

Does Trisomy X affect fertility? Does the extra X pass along to offspring?

Trisomy X does not always cause infertility. However, infertility is increasingly a reason for genetic testing, and Trisomy X has been diagnosed during infertility workups. The risk on passing on the extra chromosome to offspring, however, is low: probably less than 5 percent. If, however, the person has mosaicism with a Turner cell line, the risk of passing on an extra (or missing) X chromosome is increased. Those with Trisomy X who are contemplating pregnancy should consult a knowledgeable genetic counselor if they are concerned about this possibility. Premature ovarian failure is seen in adults with Trisomy X.

Will a baby with Trisomy X look any different from one with 46 chromosomes?

Babies with Trisomy X rarely have any detectable physical differences, which is the reason that so few children are diagnosed soon after birth. However, a baby may have very low muscle tone (hypotonia), or an epicanthal eye fold, which along with low muscle tone, may cause a pediatrician to suspect a genetic problem, such as Down syndrome, and order genetic testing. Children with Trisomy X may be less active than others, but these signs are rarely noticeable until late in the first year. At that point, delays in motor skills and a perhaps in babbling could become cause for concern.

How does Trisomy X affect children and adolescents?

Trisomy XXX is characterized by great variation in how symptoms may appear among young children as well as those who are school age or adolescent. In many cases, children with Trisomy X may be language delayed, and have poor muscle tone, leading to poor fine and gross motor skills. They may be shy and hesitant about any new experiences, such as pre-school or new foods, and they may be sensitive to loud sounds or clothing textures, and appear to have sensory issues. Children with Trisomy X can seem immature by comparison with other children their age, and their more limited verbal skills may contribute to difficulty in play situations. Some with Trisomy X have attention deficits, which may be diagnosed as attention deficit disorder or attention deficit hyperactivity disorder (ADD or ADHD). They can also demonstrate rigidity and inflexibility in their play patterns as well as interactions with other children and adults, or they can have significant anxiety around particular issues, including starting a new school year or using the toilet. Many girls with have chronic stomach pain and constipation which may be caused by anxiety, or by low muscle tone, or both. Children with Trisomy X are often somewhat taller than siblings or than peers, and may have physical signs such as an arm span measure that is greater than height, or a significant acceleration in height percentile around the age of 6 or 7 years.

Is early intervention effective in reducing developmental delay in Trisomy X?

Early intervention appears to be very effective in reducing delays in development of both motor skills and language in Trisomy X. Children who are diagnosed prenatally or in infancy may begin receiving services within the first year if they show early delays in motor skill acquisition. Children who are not meeting speech, motor and social developmental milestones on pediatric screening instruments need to be evaluated further by a developmental pediatrician or a child development center.

What treatments are available for Trisomy X?

There are no specific treatments for Trisomy X, although if there are symptoms, various treatments are recommended. Speech and motor skill difficulties respond to therapy. Anxiety and mood disorders can be treated with individual or family therapy, behavioral therapy, work with an occupational therapist, and sometimes, appropriate medication. For stomach pain, a diet rich in fiber, regular exercise, and, if necessary, a mild laxative may help. Special education accommodations can help with learning disabilities. Trisomy X will often lead to significant anxiety related to school, and a change to a smaller classroom environment or an alternative learning setting, may help. An increasing number of colleges and vocational schools have instituted programs to help those with learning disabilities to obtain degrees and credentials necessary for careers.

Are there health risks associated with Trisomy X?

Health risks are not common, but it appears that some disorders, such as autoimmune problems (lupus or rheumatoid arthritis) may be seen more often. While rare, seizure disorders, cardiac problems, and genitourinary disorders (i.e. kidney malformations) may be slightly more common. Mood disorders, including depression and bipolar disorder, appear to be much more common among girls and women with Trisomy X than in the population as a whole, although this has not yet been studied rigorously enough to quantify.

When and how should I tell my child about Trisomy X?

This is a complex and personal decision that depends on individual circumstances. With young children, it is generally best to begin short, simple explanations at about age 5 or 6. You can explain that every cell in the body has “messages” to tell the body how to grow, and that she has some extra messages,. Later, you can provide more detailed explanations about the extra chromosome. Trisomy X should never be kept a secret even if it causes few symptoms; the child may sense that there is something that caregivers are withholding from her. Reassurance that Trisomy X is common, and may cause differences.

All Conditions

What about disclosure of a sex chromosome aneuploidy to relatives, schools, employers, and romantic partners?

Before disclosing a diagnosis to relatives, such as grandparents, determine whether they are likely to be supportive and tolerant of a range of learning disabilities and other possible health and behavior problems. It is reasonable to wait with a prenatal diagnosis until some developmental delay presents, and an explanation to grandparents or to siblings is necessary.

A significant factor in disclosure is the need for social benefits and supports. Individuals with an X or Y variation may benefit from the protections and supports afforded by an IEP or 504 plan in school. In the case of a child with language, physical, learning or behavioral difficulties, disclosing the chromosomal condition to relatives is often reasonable and reassuring to them.

Disclosure to an employer is necessary if the employee is seeking employment through a supported work program or is seeking accommodations under the Americans with Disabilities Act (ADA). or to obtain US federally-mandated Family and Medical Leave.

Disclosure to the school is only necessary if there are learning or behavior problems that require special education classification, such as an IEP or Section 504 accommodation.

Individuals with 47,XXY fall in love just as other human beings do, and the condition, as any other medical condition, should be discussed at the appropriate time, without obligation to divulge all early in a relationship. If and as a relationship becomes “serious,” disclosure that is accompanied by a thorough education about the condition should take place. Support groups and list-serves can introduce couples to others who have been through building a relationship and a family; this is an occasion on which support from others in the same situation can be very helpful.

Go to our Disclosing the Diagnosis page for caregivers: https://genetic.org/im-parent-affected-child/tell-child-diagnosis/

Social Services Resources

How do I obtain a diagnosis for an X/Y chromosome variation?

Usually requires a karyotype or microarray
Any physician, nurse practitioner, physician asst or genetic counselor can order this test
If no insurance, recommend a sliding scale Federally Qualified Health Center by location: Find a Health Center (hrsa.gov)
Find genetic counseling: National Society of Genetic Counselors : Find a Genetic Counselor (nsgc.org)

What do I do if I have no insurance or a high deductible policy?

Sliding scale Federally Qualified Health Centers
Many states have financial assistance programs associated with hospitals and with university academic medicine programs
Quest Diagnostics: Quest Diagnostics : Patient Assistance
Labcorp has a financial hardship program and a low-cost testing program for those who lack insurance or are under-insured: Patient Billing and Payment Information | Labcorp
These programs can also be used for those who need regular testing e.g. testosterone levels

Is it legal for my insurance company to deny coverage? What about Medicaid?

The Affordable Care Act prohibits refusal to cover expenses related to sex chromosome aneuploidy or provide medical coverage to these individuals
For adults, all states but the following have expanded eligibility for Medicaid to low-income adults: Wyoming, Texas, South Dakota, Wisconsin, Mississippi, Tennessee, Alabama, Georgia, North Carolina, South Carolina, Kansas and Florida.
Generally, assets are limited to $2000
Contact Your State With Questions | Medicaid

How can I get coverage for my child?

States cover children through CHIP programs, which expanded Medicaid to cover uninsured children. Eligibility is not so restricted as for adults
For severely disabled children, states have Medicaid waiver programs that will cover children regardless of parent income. Few children with SCA qualify unless they have severe mental illness, seizures, severe autism, intellectual disability, etc.
Possible financial assistance for children referred to an ACRC clinic: Grant Eligibility Requirements | UnitedHealthcare Children’s Foundation (uhccf.org)

What assistance is available to cover prescription drug costs?

For those without prescription drug coverage, discounted drug prices available through: Prescription Prices, Coupons & Pharmacy Information – GoodRx
Many pharmaceutical companies have financial assistance programs for those with very low incomes, providing the drug free to consumers: Prescription Assistance Programs (PAPs) (verywellhealth.com)
Or visit the website of the specific drug needed

What benefits exist for those with X/Y chromosome variations?

A good beginning resource is to visit a Center for Independent Living serving the caller’s geographic location: ILRU Directory of Centers for Independent Living (CILs) and Associations | Independent Living Research Utilization
Centers for Independent Living can provide information on applying for Medicaid, food stamps (SNAP), subsidized housing, vocational rehabilitation, and other disability services
CILS also provide training for independent living in budgeting, travel training, self-advocacy, life skills

What other resources are available for my child?

Most states have Parent to Parent and Family Voices programs that can offer information on Early Intervention, special education programs, medical services for children with disabilities, Medicaid and CHIP child insurance coverage, developmental disabilities programs and mental health programs
Search by state for the family’s local Parent to Parent office: For Parents – P2P USA
Another resource is the State Family-to-Family Resource Center: Affiliate Archive – Family Voices

What services are there that assist with employment?

All states have vocational rehabilitation services that will assist people with disabilities in obtaining and keeping employment. These programs are partially funded by Federal grants. Locate offices by state: State Vocational Rehabilitation Agencies | Rehabilitation Services Administration (ed.gov)
Warning: Programs are underfunded. Counselors are frequently uninformed about X&Y chromosome variations. Recommend a comprehensive evaluation that details both physical and cognitive/emotional disabilities in order to qualify

What developmental disability services are there?

Only a minority of children and adults with SCA qualify for these services which can include recreation programs, life skills training, supported employment, housing assistance and group home living. Most require enrollment in Medicaid Home and Community Based waiver
Many states have waiting lists and fail to understand the multi-system complications of SCA. A comprehensive evaluation at an ACRC clinic is recommended before applying
Must search for services by state. Recommend Parent to Parent or Family to Family

What do I do if I need access to mental health services?

Start with local chapter of NAMI, National Alliance on Mental Illness: Home | NAMI: National Alliance on Mental Illness which has phone help, local support groups, services and referral centers
For suicidal callers, recommend National Suicide Prevention Hotline: 1-800-273-8255

Are there programs that provide an income to those with a disability?

Supplemental Security Income (SSI)
Social Security Disability Income (SSDI)
Approximately 1/3 of adults with SCA have qualified for one of these programs
Application process extremely difficult; 60% of applications rejected on first application and required to appeal
SCA is not a listed disability; eligibility requires medical evidence of co-morbid conditions that prevent engaging in substantial gainful activity, defined by Social Security as earning at least $1310/month
A comprehensive medical and psychological evaluation should be done, preferably by SCA professional with one of the ACRC clinics, and submitted as part of the application. It needs to include professional opinion that the individual meets the Social Security criteria for disability
Consider using an attorney or a Social Security advocate to assist with the application
For SSI, the individual may have no more that $2000 in his own name
Assets over $2000 may be sheltered in a Supplemental Needs Trust, either a pooled trust or individual trust, or an ABLE account
More information available on the Social Security website: Supplemental Security Income (SSI) Benefits | Disability Benefits

Rick Frith2023-01-06T11:36:34-05:00

A Parent’s Story

Alone No More

By Virginia Cover

In 1987, well before the Internet gave easy access to genetic information, my husband and I received a prenatal diagnosis of 47,XXY, or Klinefelter syndrome. We had excellent genetic counseling, and decided that if there were any issues, such as learning disability or speech delay, we could address it satisfactorily.

But there were challenges. Few medical or educational professionals were prepared to provide expert guidance to us, especially when our son was also diagnosed with an autism spectrum disorder. They all asked me if I knew of any link between 47,XXY and PDD-NOS (pervasive developmental disorder, not otherwise specified), which is a mild form of autism. Of course, I did not.

The few articles we had read mentioned nothing about autism. We added ASD to the challenges he had and that we dealt with on a daily basis. I have to say that we felt really alone at the time.

Our own families were very supportive of us but they also were puzzled by the lack of information about this surprisingly common genetic condition. If 1 in 600 boys and men were affected, why did we not know anyone else with an extra sex chromosome, and why did the professionals tell us that they really were not familiar with these genetic conditions?

Then one day my mother sent me a copy of a letter sent to Dear Abby. I wrote its author, Melissa Aylstock, and discovered Klinefelter Syndrome and Associates (which she had founded, later becoming AXYS). A year later, I attended my first conference, where I discovered other families with similar challenges. I especially enjoyed hearing from adults about how they had established themselves in careers despite contending with learning disabilities.

Our family also began attending New York area support groups. We discovered that our son John wasn’t alone in having a diagnosis of mild autism in addition to Klinefelter syndrome. Families traded names of doctors who had some specialized knowledge of Klinefelter’s and its impact on adolescents. We also exchanged information through the KSA listserve. Through the conferences and the newsletter, we learned about a brain imaging study at the National Institutes of Health. John participated in this study for eight years, and each time we went to Washington, we met additional families with whom to network.

Through the years, we found various professionals who took special interest in X and Y chromosome variations. They were able to help John progress through puberty fairly typically. He had teachers and psychologists who helped him graduate from high school with a Regents Diploma. But most of our emotional support came through the local support group and by attending family conferences.

I am glad that AXYS has become a valuable web-based resource for those affected by X and Y chromosome variations. The clinic consortium would have been so valuable to us during childhood and adolescence. Although it came into being after John was no longer a child and he already had a group of medical providers, I am glad it is there for all those who are newly diagnosed.

We now look forward to attending the family conferences every other year. My husband and I always go home with new knowledge and fresh perspectives. John is just happy to spend three days hanging around with other young adults who understand exactly what he has experienced in life. AXYS is the most important charity that we support annually.

John has progressed slowly but steadily as an adult. He had one false start in college but is now a sophomore, taking classes on a part-time basis. He has been able to work part time and is currently taking a vocational training program in computer maintenance and repair. John lives independently in a condo and has some support through New York State services for adults with developmental disabilities. We are grateful to all that AXYS and its community has helped us through over the years.

Rick Frith2023-08-23T12:11:13-04:00

Tell Your Child About the Diagnosis

We have gathered these resources to help you share the diagnosis involving extra X or Y chromosomes with your child. Please watch this webinar presented by Susan Howell MS, CGC, MBA – Disclosing the Diagnosis in X and Y Variations:

Our thanks to the eXtraordinarY Kids Clinic in Denver, one of the multidisciplinary clinics AXYS Clinic and Research Consortium (ACRC) for sharing these flyers – produced to help you share the diagnosis with your child.

Talking with your child about his diagnosis of Klinefelter syndrome

Talking with your child about her diagnosis of Triple X syndrome

Talking with your child about his diagnosis of XYY syndrome

You may wish to order and have on hand when you disclose the diagnosis one of these books on having extra X or Y chromosomes.

AXYS has created videos of ACRC members reading children’s books on X&Y variations. Watch the videos and order the books: https://genetic.org/books/

Rick Frith2024-08-22T14:51:30-04:00

I’m a medical professional seeking information

Looking for answers? We can help.

A doctor or other health care provider’s learning is never done. It is therefore no surprise, given the vast range of serious medical conditions affecting human beings, that many medical professionals are perhaps only vaguely familiar with X and Y chromosome variations. So we thank you for visiting this site, and we hope it will be helpful to you. We trust you will find here a useful initial storehouse of information and personal narratives that will assist your further investigation into these conditions.

The sampling of frequently asked questions below are complemented by an entire page of them that address many other aspects of sex chromosome aneuploidies. Just click here.

In addition, AXYS has developed a Clinic and Research Consortium with sites around the U.S., staffed by experts who are available for consultation on any matters pertaining to X and Y chromosome variations. Click here for a list of clinics and contact information.

Frequently Asked Questions

What are variant karyotypes of 47,XYY?

Variant karyotypes of 47,XYY, are probably not survivable in most cases. There have been a few case reports of karyotypes such as 48,XYYY, or 49,XXYYY. These individuals have had quite severe disability.

What is mosaicism?

A mosaic cell line means that a man has one cell line with 46 chromosomes, for instance, including one X and one Y chromosome, as well as a second cell line with one X and two Y chromosomes. This genetic signature would be written as 46,XY/47,XYY. The term “mosaic” is used because the cells with different numbers of chromosomes “nest” together in a mosaic pattern, much like tiles on a floor or wall.

What are variant karyotypes of 47,XXY?

Approximately 80 percent of those with 47,XXY have the 47,XXY genetic signature. In the other 20 percent, there may be more X and Y chromosomes, with genetic signatures of 48,XXXY, 48,XXYY, and 49,XXXXY. Or, individuals may have a mix of cells within the body, some XY and others XXY, which is called mosaicism. Some individuals have a genetic signature of 46,XX, but have a tiny piece of the Y chromosome appended to one of the X chromosomes, giving them male genitalia and secondary sex characteristics, such as facial hair and male muscle development.47,XYY is incorrectly associated as a variant of 47,XXY, but it is actually a distinctly different sex chromosome aneuploidy. The most obvious difference is that 47, XYY males have none of the medical and infertility issues that individuals with 47,XXY may have, although there can be behavioral difficulties and learning disabilities associated with XYY.

What are variant karyotypes of Trisomy X?

In girls and women with extra X chromosomes, about 10 percent will have 48 or 49 chromosomes. The variation with 48 chromosomes is called Tetrasomy X while the variation with 49 is called Pentasomy X. With each additional X chromosome, there is usually a decrease in IQ of about 15 points, as well as additional disability in various areas. Girls and women with Tetrasomy and Pentasomy X often have cardiac anomalies as well as genitourinary malformations or other birth defects. Unlike females with Trisomy X, many are infertile or fail to go through puberty normally and require estrogen treatment. Intellectual disability is not unusual in this population. It is also possible for a female to have only one X chromosome. This is known as Turner syndrome. It occurs at a rate of approximately 1 in 2000 to 2500 live births; only approximately 1% of fetuses with Turner syndrome survive to term. Most miscarry. Turner syndrome has a very different presentation from the trisomy sex chromosome aneuploid conditions. Girls and women with Turner syndrome usually have short stature and are infertile. They can have cardiac and other health problems.

How is 48,XXYY diagnosed?

Medical

Males with XXYY Syndrome are often diagnosed with other medical conditions or syndromes (or they may appear to have these conditions) before the XXYY diagnosis is made. These include:

Asperger Syndrome & Autism
ADD
Pervasive Developmental Disorder (PDD/NOS)
Sensory Integration Dysfunction
Hypotonia
Developmental Disability & Delay
Fragile X Syndrome
Epilepsy
Prader-Willi Syndrome
Speech Delays
Heart Problems
Hand tremors
Gynecomastia

Because many medical professionals have never had a patient with XXYY, it can be difficult to identify them. We have published this document (link below) to help you to identify potential XXYY patients. We created this booklet especially for outreach to Autism and ADHD groups and parents of children with those conditions because of the high rate of these two conditions in XXYY.

How to Identify XXYY

We also ask that you refer families to us.

Additionally, please note that older medical information on XXYY Syndrome is very limited and often out-dated. Males with XXYY are NOT necessarily violent. Such studies were conducted in prisons. Subjects did not have the benefit of correct diagnosis and treatment. Males with XXYY most likely DO need hormone replacement therapy. HRT does not make them aggressive. In fact, the opposite is true.

Mental Health

Mental Health professionals are in a unique position to assist in identifying males with XXYY Syndrome. If you see a patient with the following characteristics, coupled with other medical and learning problems or characteristics listed on this site, please refer him to his primary care physician and ask for genetic testing:

Moodiness
Bi-Polar disorder
Frustration
Outbursts
Difficulties in social situations
Extraordinary imagination
Difficulty telling the truth

Males with XXYY Syndrome often have unusual reactions to medications. Parents have found that ADD medications used at high doses can positively change behavior along with helping with attentional problems. Other medications for mood stabilization, etc., can seem to work for a while but then make matters worse. We encourage parents to keep written logs of changes in behavior of any kind after beginning medication treatments.

Dental

Males with XXYY Syndrome have unique and very prominent dental problems. Look for:

Taurodontism
Missing adult teeth
Poor enamel
Poor dental hygiene

Education

Teachers are an extremely important piece of the XXYY puzzle. Males with XXYY are visual learners. They often hide in small places (under the desk, for example) because of sensory overload. Because of hand tremors, they may have significant difficulties with writing. Behavior outbursts may also happen.
The XXYY Project will be working on developing Individual Education Plans in the future. If you are a special education teacher and would like to contribute to the project, please contact us.

Speech, Physical and Occupational Therapists

Therapists, especially speech therapists, are often the first to see a male with XXYY Syndrome since speech delay is one of the first symptoms to become apparant. Some parents have found the use of sign language when a child is young seems to reduce frustration considerably. Because of low muscle tone, males with XXYY Syndrome need strengthening exercises for all muscles. A plan that includes all three therapies is the best possible assistance that can be given to a male with XXYY Syndrome at an early age. Occupational therapy is very valuable and if it can be done in conjunction with some training for the classroom teacher, it is most beneficial.

Brenda’s Story

“One thing I am rapidly learning is how much contradictory information there is about X and Y chromosome variations in the medical community. Interestingly, my baby has no developmental delays yet but he has more physical characteristics than most of the babies I have seen on the AXYS website. Clenched fists, deformed ear lobes… slanted eyes…one drooped eyelid…But he is a little ball of personality!”

Brenda

More Information

Variations

Resources

Latest News and Research

For a library of past news items, click here.

Rick Frith2023-09-05T16:37:32-04:00

I’m pregnant and have genetics questions

Looking for answers? We can help.

Medical care during pregnancy often includes screening for genetic conditions. We take special care at AXYS to provide scientific information and unbiased support. We hope you will find the resources and links on these pages helpful, while also feeling free to contact us directly for additional assistance.

If you had a genetic test that indicates one of the following conditions, click the link for more information.

47,XXY
47,XYY
47,XXX
48,XXYY
Other Variations

Frequently Asked Questions

Can a prenatal test tell me whether my child will have an X or Y chromosome variation?

It depends on the test. A non-invasive prenatal blood test can suggest only that your fetus is at risk, but is not a diagnosis. But two other invasive tests—amniocentesis and chorionic villus sampling (CVS), serve as a definitive diagnosis. Click here for more information on prenatal testing.

What is the role of a genetic counselor when I've been told I may have a baby with an X or Y variation?

Genetic counselors receive a great deal of training on various genetic conditions and can be of tremendous assistance when discussing the implications of various tests. They can be particularly valuable after you’ve had a blood test indicating your fetus may be at risk for a genetic condition. AXYS maintains a list of qualified genetic counselors across the country, and can assist you in making contact with them.

Will a child born with an X or Y variation look any different than children with 46 chromosomes?

Generally, children born with an extra X or Y chromosome do not have any obvious physical differences, which is why so few children are diagnosed soon after birth. In children with two or more extra X or Y chromosomes, there may be more pronounced physical signs. Consult the links above for the specific condition of your child for more information.

What should I tell relatives, friends and others about my baby having an X or Y chromosome condition?

These conditions are common enough that they need not be revealed as something disturbing. Every person is different, and an X or Y variation is just one more way human beings are shown to be unique. However, before disclosing a diagnosis to relatives such as grandparents, siblings and others, it may pay to be patient. You may wish to consult with a genetic counselor or trusted, informed advisor about what to say and when to say it. It is reasonable to wait with a prenatal diagnosis until your child shows some symptoms associated with the condition, such as developmental delay or learning difficulty. It is well-known that such delays vary greatly with the different conditions and among different individuals. For a more extensive discussion on this matter extending further into your child’s life, scroll to the bottom of this site’s Frequently Asked Questions page.

Candace’s Story

“My little guy is 3 and has been a beautiful addition to our family. He has the sweetest most loving personality. He seems to be progressing well in all areas, with the exception of expressive speech, which is very delayed. I think with the right therapies in place and a willingness to learn, parents need not fear an extra X or Y chromosome diagnosis. It’s all in what you make of it.”

Candace

More Information

Variations

Resources

Latest News and Research

For a library of past news items, click here.

Rick Frith2023-09-05T16:31:17-04:00

I’m an adult new to these conditions

Looking for answers? We can help.

Unlike many conditions that have obvious, defined symptoms well-known to physicians and the general population, X and Y chromosome variations often affect people only subtly, with mild and mysterious symptoms that are often dismissed as normal developmental variations or individual quirks. This can delay diagnosis for years, much to the frustration of those who experience them.

Being diagnosed with a genetic condition as an adult can be a highly distressing experience. But for many people, it can also come as a profound relief. Finally, they have an answer to the questions that have simmered in their lives about feeling different, with challenges that did not seem to affect other family members or their peers.

At AXYS, we also know that a diagnosis can act as a springboard to new knowledge, new perspective, and a new resolve for you to finally obtain the support you need to make the most of your life. Whether you were diagnosed just recently or years ago and are still sorting out the implications, you can always expand your knowledge base and arm yourself with new tools and approaches to addressing your condition. Over the years, we have seen countless people find their way forward and accomplish more than they thought was possible before their diagnosis.

Toward that end, the entire AXYS community stands ready to assist you in all the ways described in this website. Whether you gain knowledge from what you read here, the conversations taking place at clinics and conferences or daily on our Facebook page, or via support from our Helpline (1‑267‑338‑4262), you can rest assured that others are available and supportive of your desire to lead a productive and rewarding life.

Frequently Asked Questions

How common are X and Y variations in the general population?

The different conditions occur at varying rates in the population. 47,XXY occurs in approximately 1 in 600 males, 47,XYY in 1 in 1,000 males. 47,XXX (Trisomy X) occurs in approximately 1 in 1,000 females. 48,XXYY is comparatively rare at approximately 1 in 18,000-40,000 males.

Do X and Y variations share any common symptoms?

Although most people born with X and Y variations exhibit some degree of cognitive impairment, severity can vary quite widely among the different conditions and even among different people with the same condition. Speech delay, low muscle tone and poor coordination, learning disabilities, and tall stature are other common symptoms, as are psychological challenges of anxiety, depression, attention deficits and social immaturity. Only rarely do individuals exhibit a great number of these symptoms, and indeed, the fact that many exhibit only a few, with limited severity, is why so many people with an X or Y variation remain undiagnosed for much of their lives.

What is the rate of those with an X or Y variation who go undiagnosed into adulthood?

Approximately 75% go undiagnosed their entire lives. This reflects the fact that the presenting symptoms of the conditions are often easily passed off as part of normal human variation, despite the considerable educational and social challenges they may present to affected individuals and their families.

Are X and Y variations inherited?

No. The extra chromosomes in these conditions result from an error in cell division when an egg or sperm is formed, or after fertilization. Males have one X chromosome and females have two, so both the mother and father can contribute an extra X. Since females lack any Y chromosomes, only males can contribute an extra Y to their child. In 48,XXYY, the error in cell division occurs when the sperm is formed. The father contributes the extra X and Y chromosomes, in all cases.

Susan’s Story

“I always struggled in school, especially in reading. But a lot of kids were in the same boat so I didn’t stand out too much. I made it through high school and even some college before I got a job. But social life was never easy for me and I carried a lot of self-esteem issues into adulthood. Finally, my doctor suggested the possibility of testing to rule out any organic causes, and I was amazed to find out I have Trisomy X. It was more a feeling of relief than anything else. A lot of puzzle pieces fell into place that day.”

Susan

More Information

Variations

Resources

Latest News & Research

Rick Frith2023-09-05T16:18:55-04:00

I’m a parent of a diagnosed child

Looking for answers? We can help.

Finding out that your child has a genetic condition can be extremely challenging for parents. It may leave you wondering whether you will have to reassess everything you had planned and hoped for regarding your child’s and family’s future. But life does not stop with the discovery of an extra X or Y chromosome, nor will your child stop growing. Life will be different, but not without many of the same joys and challenges that all parents feel in their children’s lives.

Here you will find many resources to help you better understand your child and get the support you need to help guide them to maturity and their fullest potential.

Frequently Asked Questions

The questions below serve as a general preview for the more extensive list of Frequently Asked Questions on X and Y chromosome variations, grouped by condition, that is available here.

What is 47,XXY?

47,XXY, also commonly referred to as Klinefelter syndrome, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Rather than the usual pattern of 46 chromosomes, with one X chromosome and one Y chromosome, there is an additional X chromosome, resulting in a genetic signature of 47,XXY. This happens when paired chromosomes fail to separate at the first or second stage of meiosis. The exact cause is unknown. The extra chromosome can come from either parent; there is little relation to either maternal or paternal age. An extra chromosome in a pair (ie the X and Y chromosomes) is called a trisomy. 47,XXY, unlike most trisomy conditions, is highly survivable for the fetus and causes symptoms that vary greatly from one person to another. An extra or missing sex chromosome yields a syndrome called sex chromosome aneuploidy. A syndrome is a collection of symptoms and physical signs. In some individuals, the manifestations of 47,XXY are mild and barely noticeable while in others, there is more severe symptomatology.

Booklet: For EXtra Special BoYs – A Guide to 47,XXY, Klinefelter Syndrome

What is 47,XYY?

Rather than having the usual male pattern of 46 chromosomes with one X chromosome from the mother’s egg and one Y chromosome from the father’s sperm, individuals with 47,XYY are born with an additional Y chromosome. This results in the genetic signature of 47,XYY, which occurs in approximately 1 in every 1,000 males.

47,XYY results from an error in cell division when an egg or sperm is formed in a parent, or after fertilization, when the cells divide in the embryo. That means it, like other X and Y conditions, is not inherited, though the exact cause of the cell division errors is unknown.

An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy. 47,XYY and the other trisomy sex chromosome conditions (47,XXY and Trisomy X), are highly survivable for the fetus, rarely cause severe disability, and can have symptoms that vary greatly from one person to another. In some males, the manifestations of 47,XYY are mild and barely noticeable while in others there are much more severe symptoms.

Booklet: For EXtraordinarY BoYs – A Guide to 47,XYY

What is Trisomy X?

Trisomy X, also known as 47,XXX, is estimated to occur in 1 out of 1000 females. Rather than the usual female pattern of 46 chromosomes with two X chromosomes, there is an additional X chromosome, resulting in a genetic signature of 47,XXX. This happens when paired chromosomes fail to separate during meiosis, creating either an egg or a sperm with an extra X chromosome, or after fertilization during mitosis, when the cells divide in the embryo. The exact cause is unknown. The extra chromosome can come from either the egg or the sperm although in Trisomy X, it is more likely to be contributed by the egg. An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy. There is some relationship to advanced maternal age, although it is not nearly as strong as in Down syndrome, which is also a trisomy condition involving chromosome 21. Unlike most trisomy conditions, Trisomy X and the other trisomy sex chromosome aneuploid conditions (47,XXY and 47,XYY) are highly survivable for the fetus and cause symptoms that vary greatly from one person to another. An extra or missing sex chromosome yields a syndrome called sex chromosome aneuploidy. A syndrome is a collection of symptoms and physical signs. In some females, the manifestations of 47,XXX, are mild and barely noticeable while in others, there are much more severe symptoms.

Booklet: For EXtra Special Girls – A Guide to Trisomy X (47,XXX)

What are the considerations in disclosing an X or Y variation to relatives, schools, employers or romantic partners?

Before disclosing a diagnosis to relatives, such as grandparents, determine whether they are likely to be supportive and tolerant of a range of learning disabilities and other possible health and behavior problems. It is reasonable to wait with a prenatal diagnosis until your child demonstrates some developmental delay, and an explanation to grandparents or to siblings becomes necessary.

A significant factor in disclosure is the need for social benefits and supports. Most accommodations of any type have their basis in the American’ with Disabilities Act (ADA). The XXY individual may not be disabled and yet still qualify for services and accommodations. For example, a person with XXY may benefit from the protections and supports afforded by an IEP or 504 plan in school. In the case of a child with language, physical, learning or behavioral difficulties, disclosing the chromosomal condition to relatives is often reasonable and reassuring to them. It is important to know as much information as possible so that you can address concerns, particularly where the relative has heard one of the myths about 47,XXY. Some of these myths suggest that 47,XXY causes intellectual and developmental disabilities (previously called mental retardation), increased criminal behavior, or that individuals with 47,XXY are actually women.

It is important to emphasize that most XXYs have IQs between 85 and 120, although some individuals with more than two additional chromosomes may have intellectual and developmental disabilities. In addition, XXYs as a group actually have lower than expected rates of criminal convictions, when compared with the general population of males. And, while respecting those XXYs who identify as a different gender, the presence of a Y chromosome almost always determines that a human develops as a male, although there are some syndromes (not related to 47,XXY) in which a human with a Y chromosome may develop as a female, rather than as a male. A minority of XXYs identify as another gender or intersex.

Disclosure to an employer is rarely necessary unless the employee is seeking employment through a supported work program or is seeking some other special accommodations under the ADA. Genetic information should remain private because disclosing such information may make obtaining health or life insurance difficult. Employers or others may make unjustified assumptions that certain myths (cited above) are true for persons with 47,XXY. In some cases, however, disclosure may be necessary in order to obtain federally-mandated Family and Medical Leave, or some other benefit such as disability coverage or an accommodation under the ADA.

Disclosure to schools is necessary only if your child demonstrates significant learning or behavior problems that require special education classification, such as an IEP or Section 504 accommodation. Schools will often be unaware of the condition, and staff will need to be educated about XXY, usually by the parent. Taking a selection of website printouts explaining the condition and its impact on learning can be very helpful. Some parents have found that special education services are more likely to be appropriate when the pediatrician provides a diagnosis under the classification of “other health impaired” such as Pervasive Developmental Disorder-NOS (PDD), rather than 47,XXY. Schools understand autistic-like behavioral and language difficulties when they occur in high-functioning children, and many schools have programs in place to address these problems. In addition, these programs are mandated in many states for children with autism spectrum disorders, of which PDD is one. The schools may not realize that XXY children often have the same deficits and are also eligible for these services.

To access these accommodations, parents are well advised to learn the glossary of key terminology that helps make the case to qualify their child student for these supports. It also may be helpful to recruit local disabilities advocates, such as the ARC, to assist with the qualification process.

Individuals with 47,XXY fall in love just as other human beings do, so they should divulge their condition at the appropriate time in a developing relationship. If and as any given relationship advances past the casual dating phase, disclosure—along with thorough education about the condition—may well become advisable. Support groups and list-serves can be very helpful in introducing new couples to others who have been through building a relationship and a family.

Alan’s Story

“My son was diagnosed at 18 months. He is now 8. We take him to a speech therapist once a fortnight and he has a tutor for school. Although he has a modified IEP (individual education plan), he is doing OK at school. His strengths seem to be with people. He makes friends easily and quickly. He really knows how to have fun and is known for having a good time.”

Alan

More Information

Variations

Resources

Latest News & Research

Rick Frith2023-09-05T16:18:13-04:00

Volunteer

Volunteer Opportunities

AXYS exists through the dedication and commitment of those who support it in any and all the ways they can. In some cases, that support is financial; in others, it involves direct volunteer service. Volunteer opportunities are varied and may include:

Participating in AXYS committees including fundraising, program, support groups, finance and governance, and research
Helping to answer or serving as a resource volunteer for the Helpline
Posting accurate information on Facebook pages and other social media, and helping to monitor postings on AXYS’ own social media

· Serving as a volunteer resource with expertise in marketing, health care, mental health, communications (including newsletters and publications,) criminal justice and other legal matters

To get started with volunteering, please complete this online form.

All volunteers will be asked to complete a Volunteer Confidentiality Agreement.

Rick Frith2025-02-28T13:51:32-05:00

Search results for: ⡅🏒 www.Pharmacity.shop 🏒⡅ cheap Motilium tablets fast shipping online order cost Bactrim tablets online pharmacy/page/35/genetic.org

Officers

Ginnie Cover, Chair

Gail Decker, Vice Chair

Janine Walker, Treasurer

Jessica Grove, Secretary

Ginnie Cover, Chair

Gail Decker, Vice Chair

Janine Walker, Treasurer

Jessica Grove, Secretary

Directors

Dalene Basden

Andrew Curry

Kirsten Dougherty

Erynn Gordon

Tina Hanif

Chijioke Ikomi, MD

Andrea Millett

Pete Orrall

Melody Pancheri

John Sloss

Dalene Basden

Andrew Curry

Kirsten Dougherty

Erynn Gordon

Tina Hanif

Chijioke Ikomi, MD

Andrea Millett

Pete Orrall

Melody Pancheri

John Sloss

Staff

Lindsey Lind, Program Director

Rick Frith, Communications Manager

Sheryl Kelly, Executive Director Emerita

Lindsey Lind, Program Director

Rick Frith, Communications Manager

Sheryl Kelly, Executive Director Emerita

47,XXY

47,XYY

47,XXX

All Conditions

Social Services Resources

Tell Your Child About the Diagnosis

Looking for answers? We can help.

Frequently Asked Questions

Medical

Mental Health

Dental

Education

Speech, Physical and Occupational Therapists

Brenda’s Story

More Information

Variations

Resources

Latest News and Research

For a library of past news items, click here.

Looking for answers? We can help.

Frequently Asked Questions

Candace’s Story

More Information

Variations

Resources

Latest News and Research

For a library of past news items, click here.

Looking for answers? We can help.

Frequently Asked Questions

Susan’s Story

More Information

Variations

Resources

Latest News & Research

Looking for answers? We can help.

Frequently Asked Questions