GALAXY Registry

GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations

Since many of the X&Y variations are rare, we need to help doctors and researchers by having one registry where they can both add medical data and access data to craft medical articles. This will help the AXYS community get better, informed medical care. AXYS supports this registry. Dr. Shanlee Davis is the lead doctor for this project.

If you join the study, you are allowing information in your medical records to be used for research. Additionally, you have the option to complete questionnaires or join a recruitment list for future research. The registry webpage is accessed here: www.galaxyregistry.org

To learn more about this project, contact 720-777-0705 or email galaxy@ucdenver.edu.

(COMIRB# 20-0482, ; PI Dr. Shanlee Davis; funded in part by AXYS)

You can also enroll yourself/your child in the registry online without coming into clinic, click here for the eligibility and consent information.

View/Download the GALAXY Registry flyer

GALAXY Registry Dashboard

View this dashboard to see how many people are in the registry. We’re making great progress!

Rick Frith2022-11-16T14:27:55-05:00

AXYS 2023 Virtual Family Conference

Registered for the conference? Sign in here.

June 22 — June 27, 2023

Please mark your calendars for June 22 to 27, 2023. The schedule will be announced soon. While we are sad to not get together in person, we are happy to be able to offer our amazing educational sessions and social events to you in your home. It is our hope that this will allow the maximum number of individuals with an X&Y variation and their families to participate.

Speakers include Dr. Nicole Tartaglia, Dr. Shanlee Davis, Dr. Erin Torres and Dr. Sharron Close. More speakers will be added as we confirm their schedules. Topics include: testosterone, the GALAXY registry, research update, and fertility. We will gather by condition and by geography.

Volunteer to help plan the Conference
We are creating a list of potential volunteers. Please use this survey to sign up: https://www.surveymonkey.com/r/AXYS2023Volunteer

Conference Suggestions
The Conference Planning Committee is taking under consideration past conference attendee surveys, the surveys we have done prior to other conferences, and emails and conversations from our community. We are using this feedback and your suggestions to plan our 2023 AXYS Family Conference. If you have suggestions, please use this form to share them with the planning committee: https://www.surveymonkey.com/r/AXYS2023Input

We’re so happy you can join us! A quick reminder that all AXYS event attendees agree to abide by the AXYS Activities Conduct Policy. Please read this prior to attending an AXYS event.

Rick Frith2023-06-02T17:27:59-04:00

About Mosaicism

When a person is tested for X& Y variations, many cells are examined. When this test shows that a person has some cells with one number of chromosomes, and other cells have more or fewer chromosomes, we call this being mosaic.

A person can be mosaic with any X or Y variation.

Some people with Klinefelter syndrome have 47,XXY/46,XY mosaicism. While some small studies found those with mosaic XXY have less severe symptoms that those who have XXY in 100% of their cells, we really do not know for sure. Note most people with XXY are not diagnosed during their lives, and XXY is a spectrum condition.

To understand how being mosaic for any X or Y variation may affect you or your loved one we strongly suggesting seeing a genetic counselor or a genetic medicine specialist.

Rick Frith2024-05-09T11:26:05-04:00

About 48,XXXY

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48,XXXY syndrome, also known as XXXY syndrome, is a less common X and Y chromosome condition, affecting between 1 in 17,000 and 1 in 50,000 male births. 48,XXXY is caused when nondisjunction errors occur in the development of the egg or sperm, resulting in a male inheriting two extra copies of the X chromosome.

48,XXXY is associated with a variety of symptoms, but not everyone has the same symptoms or at the same level. Symptoms of 48,XXXY may include:

Learning problems ranging from learning disabilities to intellectual disability
Delays and disorders in speech and language
Delays in motor skills like sitting, standing, and walking and motor coordination difficulties
Low muscle tone
Birth defects, more commonly cardiac, genital, or musculoskeletal systems
Distinctive physical features like wider-set eyes and curvature in pinky fingers
Irritability, outbursts, and temper tantrums
Anxiety
ADHD
Impaired social skills, social communication problems, autistic traits
Hypogonadism and infertility
Risk for gynecomastia
Average to taller height
Dental problems
Neurological problems such as seizures, tremors or motor tics
Allergies, asthma, and eczema
Hormone problems including hypothyroidism and diabetes
Strabismus
Sleep apnea
Gastrointestinal problems including reflux, constipation and eosinophilic esophagitis
Musculoskeletal problems including flat feet, radioulnar synostosis, scoliosis, osteoporosis
Risks for blood clots
Impaired adaptive skills

Testing

48,XXXY can be identified during pregnancy via amniocentesis, CVS, or NIPS (screening test only). A diagnosis of 48,XXXY involves a special genetic test (commonly by blood after birth), typically either a karyotype or a microarray. These tests can be ordered by most medical providers and are available through most major labs.

Resources

Facebook Support Groups: AXYS XXXY Global Support Group | 48,XXXY Medical Syndrome

48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome

The Story of Rapha, a Boy with 48,XXXY/49,XXXXY

Thinking About Starting Testosterone for XXY/XXYY/XXXY

Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

Rick Frith2024-02-26T15:20:30-05:00

XXYY Project Clinic Visit Stipend Reimbursement Form

XXYY Project Clinic Visit Stipend Reimbursement Form

Rick Frith2023-10-24T16:51:41-04:00

Upstate New York Support Group Meeting

Sunday July 17, 2022
Lunch in the park
Noon to 4PM
NOTE: The venue for this meeting has changed! The meeting will now be held at Powder Horn Lodge at Powder Mills Park.

We have booked a park lodge with lots of room for outdoor activities and discussions
Bring a dish to pass and an outdoor/indoor game if you have one.
Hot dogs, hamburgers, veggie burgers, and drinks will be provided.

Details:
Park map: https://www2.monroecounty.gov/mcparks/user/maps/PMP.pdf

Directions: https://www.google.com/maps/place/Powder+Horn+Lodge/@43.0396785,-77.4826727,17z
Note: Although we have indoor space, please dress for the weather. Also proof of Vax is required.

Please RSVP Carrie Riby at carrieriby@gmail.com by 7/10 so we can order enough food.

Rick Frith2022-07-14T14:00:23-04:00Categories: Support Group Meeting|

Congenital heart defects associated with aneuploidy syndromes

Article Title: Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

Authors: Lin, Santoro, High, Goldenberg, and Gutmark-Little

Date of Publication: November 7, 2019

“The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY).We also discuss the impact of noninvasive prenatal screening (mainly, cell-free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a ‘phenotype’ which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision-making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.”

Rick Frith2021-09-17T19:58:01-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY, Other Variations|

The Need for Greater Awareness of Sex Chromosome Variations

Article Title: The Need for Greater Awareness of Sex Chromosome Variations

Author: Erin Torres, MSN, PMHNP-BC, RN-BC

Date of Publication: September 2021

From the article’s abstract: “Health care providers remain ill prepared to recognize these conditions and support patients and their families.”

Rick Frith2021-09-02T11:12:57-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|

XXYY Project Clinic Visit Stipend

Clinic Visit Stipend

The XXYY Project is thrilled to offer a $480 stipend to help up to 10 families per calendar year with the costs to their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. This can be used to offset the visit to a clinic for an individual diagnosed with 48,XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. Complete this application form. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form for travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $480.

Clinic Visit Stipend Application Form

Clinic Visit Stipend

The XXYY Project is thrilled to offer a $480 stipend to help up to 10 families per calendar year with the costs to their visit to an ACRC ( AXYS Clinical and Research Consortium) clinic. This can be used to offset the first visit to a clinic for an individual diagnosed with 48, XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. Complete the application form below. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form for travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $480.