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.

Finances

As a small nonprofit 501(c)(3) organization, AXYS relies primarily on the generosity of donors who provide the necessary financial support and volunteers who help with the countless tasks needing attention on a daily basis. Our finances are always open for inspection. Below are links to relevant documents that detail our financial activity over the years.

View our Guidestar profile for more information.

IRS Tax Returns

2024 990

2023 990

2022 990

2021 990

2020 990

2019 990

2018 990-EZ

2017 990

2016 990-EZ

2015 990

2014 990-EZ and FASB Functional Categories Detail

2013 990-EZ and FASB Functional Categories Detail

2012 990-EZ 

2011 990-EZ

2010 990-EZ

2009 990-EZ

2008 990-EZ

2007 990-EZ

About 47,XYY

47,XYY affects about 1 in 1,000 males. Adding to its relative rarity, it is diagnosed in only about 10 percent of cases, often during prenatal testing.

Many with 47,XYY have no symptoms at all. Others can demonstrate significant developmental and behavioral issues.

47,XYY was sometimes referred to as “Jacob’s syndrome.”

XYY Symptoms

47,XYY may produce a wide array of symptoms, although most people with the extra Y chromosome it entails will exhibit only some, but not all, of the following:

• Tall stature
• Low muscle tone (can affect motor development and coordination)
• Subtle developmental delays / delayed developmental milestones
• Speech delay / expressive language disorder
• Learning disability (such as dyslexia and difficulties with written expression)
• Autism
• Attention deficits (such as ADD or ADHD)
• Depression, Anxiety, or other mood disorder
• Behavioral differences including social skill impairment, immaturity, low self-esteem, and impulsivity
• Severe acne in adolescence

The Case for Testing

When children show a history of symptoms such as speech delay, learning disability, or autism, parents should strongly consider genetic testing to determine if the cause is a sex chromosome aneuploidy (SCA). Testing for 47,XYY involves a specialized blood test, either a “karyotyping” or a “microarray.” Health care professionals are often unfamiliar with the developmental and cognitive deficits associated with X&Y variations.

Resources

Frequently Asked Questions about 47,XYY

Downloadable Brochure- About 47,XYY  |  Versión en español
Trifold brochure printing instructions: Be sure you are printing in two-sided (duplex) mode, and to select the “Flip on Short Edge” or “Short-Edge Binding” option, if available in the Print dialog box or any associated dialog boxes.

Living with Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome Variations

Thanks to the generosity of the book’s author, Virginia Isaacs Cover, MSW, AXYS is pleased to make this book available to the X and Y variation community, in its entirety, at no cost. Please feel free to download and/or print it for your personal use. Those wishing to purchase a soft-bound copy can do so at Amazon or Kindle. All proceeds from the sale of this book benefit the GALAXY registry of X and Y variations.

Spanish: “A Guide for Families and Individuals Affected by X and Y Chromosome Variations”

About Trisomy X

Typically, a female has 2 X chromosomes. 1 in 1,000 females has an extra X. This is called Trisomy X. It is also written as 47,XXX.

As you can see in the adjoining photo collage of girls and young women with 47,XXX, the condition is not characterized by any prominent physical features. Children and adults with Trisomy X do not look different than their peers, though they may be somewhat taller. Some have a curved little finger, epicanthal eyelid fold (skin curving slightly down toward the inner eye), and flat feet. Some have very little in the way of symptoms, others have significant developmental, medical, and psychological issues.

Symptoms

47,XXX may produce the following additional symptoms, although most affected individuals will have only some of them:

• Low muscle tone (can affect motor development and coordination)
• Subtle developmental delays / delayed developmental milestones
• Speech delay/expressive language disorder
• Learning disabilities (such as dyslexia and difficulties with written expression)
• Chronic stomach pain and constipation
• Attention deficits (such as ADD or ADHD)
• Depression, Anxiety, or other mood disorder
• Behavioral differences including social skill impairment, immaturity, low self-esteem
• Genitourinary or kidney malformations
• Seizures
• Tremors
• Puberty and fertility are typically considered normal in 47, XXX; though there is increased risk of Premature Ovarian insufficiency (menstrual periods stop before age 40)

Because symptoms are subtle and vary widely from one person to the next, only 10 percent of those with Trisomy X are diagnosed during their lifetimes. More are being identified prenatally due to maternal testing (amniocentesis, CVS, or non-invasive cell free DNA blood test).

Adults may learn they have an extra X chromosome during infertility testing or during non-invasive prenatal testing when the mother’s extra X may be detected during cell-free DNA blood work.

The Importance of Testing

One of the goals of AXYS is to raise awareness of the developmental, medical and psychosocial issues that may accompany 47,XXX. Children with symptoms such as speech delay, learning disability, developmental delays or genitourinary malformations should be followed up with genetic testing to determine if the cause is an X and Y variation. 

Please visit our Prenatal Testing Page for more information regarding genetic testing: https://genetic.org/im-pregnant-genetic-testing-questions/prenatal-testing/

Resources

Frequently Asked Questions about 47,XXX

Downloadable Brochure- About 47,XXX (Trisomy X)  |  Versión en español
Trifold brochure printing instructions: Be sure you are printing in two-sided (duplex) mode, and to select the “Flip on Short Edge” or “Short-Edge Binding” option, if available in the Print dialog box or any associated dialog boxes.

Living with Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome Variations

Thanks to the generosity of the book’s author, Virginia Isaacs Cover, MSW, AXYS is pleased to make this book available to the X and Y variation community, in its entirety, at no cost. Please feel free to download and/or print it for your personal use. Those wishing to purchase a soft-bound copy can do so at Amazon or Kindle. All proceeds from the sale of this book benefit the GALAXY registry of X and Y variations.

Spanish: “A Guide for Families and Individuals Affected by X and Y Chromosome Variations”

Trisomy X article by Nicole Tartaglia, et al | Spanish language version

Expanding the Phenotype of Triple X Syndrome by Nicole Tartaglia, et al

Talking to your daughter: “My Guide to Trisomy X”

“Elizabeth and her Extra X”

Self Management Traffic Light Resource
This resource was created by an adult with Trisomy X. We’re grateful they shared it with us. We hope you find it helpful.

Facebook Support Groups

Trisomy X/Triple X/XXX Global Support Group

Trisomy X- A Group Just For Us

Other Trisomy X Websites

Contactgroep Triple-X Syndroom (The Netherlands)

About 47,XXY
(Klinefelter syndrome)

47,XXY (Klinefelter syndrome) is the most common of the X and Y variations, occurring in approximately 1 out of every 600 male births.

One of the challenges of 47,XXY is that it is not characterized by any prominent physical features. This is thought to be one of the reasons that an estimated 60 to 75% of individuals with 47,XXY will remain undiagnosed throughout their lifetimes. Some people with 47,XXY may have subtle physical differences may including slightly taller stature, a curved little finger, small testes in adults, difficulty straightening out the elbows (“radioulnar synostosis”), flat feet, and a small depression in the chest.

47,XXY may produce the following additional symptoms,
although most people with the condition will demonstrate only some, but not all, of them:

• Infertility or lowered fertility
• Hypogonadism (low levels of testosterone)
• Low muscle tone
• Osteoporosis
• Speech delay/expressive language disorder
• Developmental delays
• Learning disabilities
• Attention deficits (such as ADD or ADHD)
• Autism spectrum disorder
• Depression and/or Anxiety
• Behavioral differences including shy disposition and immaturity
• Tooth decay despite good dental hygiene

This genetic signature is also called Klinefelter syndrome because it was first described in 1942 by Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital. He published a case study of nine adult men with a common set of symptoms involving hypogonadism. At the time, chromosomes had not yet been discovered. That occurred in 1956, when scientists confirmed that humans typically have 23 pairs of chromosomes, including two sex chromosomes. In 1959, scientists identified an extra X chromosome as the genetic marker for Klinefelter syndrome, and gave it the genetic signature of 47,XXY.

Some individuals are found to have 47,XXY before birth due to maternal testing (via amniocentesis, CVS, or a non-invasive cell free DNA blood test). Another point at which 47,XXY, may be detected in an affected individual is during infertility testing in adulthood.

AXYS encourages families to be aware of the developmental, medical and psychosocial issues that may accompany 47,XXY. When children exhibit a history of symptoms such as speech delay, learning disability, autism, or delayed puberty, parents may wish to ask for genetic testing to determine whether the cause is an X or Y variation

Testing

Testing for 47,XXY involves a specialized blood test, either a “karyotyping” or a “microarray.” Health care professionals may be familiar with the endocrine features of Klinefelter syndrome, but not the developmental and cognitive difficulties associated with it.

Klinefelter Syndrome Resources

Frequently Asked Questions about 47,XXY

Downloadable Brochure: About 47,XXY (Klinefelter syndrome) |  Versión en español
Trifold brochure printing instructions: Be sure you are printing in two-sided (duplex) mode, and to select the “Flip on Short Edge” or “Short-Edge Binding” option, if available in the Print dialog box or any associated dialog boxes.

Living with Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome Variations

Thanks to the generosity of the book’s author, Virginia Isaacs Cover, MSW, AXYS is pleased to make this book available to the X and Y variation community, in its entirety, at no cost. Please feel free to download and/or print it for your personal use. Those wishing to purchase a soft-bound copy can do so at Amazon or Kindle. All proceeds from the sale of this book benefit the GALAXY registry of X and Y variations.

Spanish: “A Guide for Families and Individuals Affected by X and Y Chromosome Variations”

Click here for an informative Medscape article on Klinefelter syndrome.

Visit our CafePress store to support AXYS and raise awareness of 47,XXY.