Article Title: Mosaic double aneuploidy: Down syndrome and XYY
Authors: Parihar, Koshy, and Srivastava
Date of Publication: July 2013
“Down syndrome (trisomy 21) is the most common aneuploidy seen in live born infants. Rarely, infants with typical phenotypic features of Down syndrome may have an additional aneuploidy. We report a patient with Down syndrome who had mosaicism for XYY. There is only one other report of such a patient.”
Article Title: Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual
Authors: Pattamshetty, Mantri, and Mohan
Date of Publication: April 12, 2020
“Early cytogenetic testing is essential to identify these individuals and testosterone replacement therapy and breast reduction for case management are helpful. Assisted reproductive technology (ART) may assist these individuals father children in some cases.”
Article Title: Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients
Authors: Samplaski, Lo, Grober, Millar, Dimitromanolakis, and Jarvi
Date of Publication: April 2014
“Klinefelter syndrome (KS) is the most common genetic cause of human male infertility. About 80% to 85% of cases are due to the congenital numerical chromosome aberration 47,XXY. Approximately 15% to 20% of KS men are mosaics, usually with two cell lines: 47,XXY/46,XY. The true prevalence of mosaic forms may be underestimated due to different chromosomal mosaicism levels in different tissues. In addition, popular belief holds that men with mosaic KS are more androgenized than their non-mosaic counterparts. These two factors, in addition to others, may result in underdetection of men with mosaic KS.”
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.
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.
Article Title: Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review
Authors: Mehmet, Gillard, Jayasena, and Llahana
Date of Publication: May 31, 2022
“This is the first evidence synthesis of QoL in men with KS. Current evidence suggests that combined physical and psychological impairments affect men with KS who also experience impairments in relationships and independence in society. Further research is needed to identify factors that influence the QoL in men with KS.”
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.
Article Title: Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention
Authors: Bouw, Swaab, Tartaglia, Wilson, van der Velde, and van Rijn
Date of Publication: September 15, 2022
“These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.”
Article Title: The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study
Authors: Berglund, Stochholm, and Gravholt
Date of Publication: November 30, 2021
“The 47,XXX syndrome is associated with an increased occurrence of a wide variety of diseases. Increased awareness of this may contribute to improve counseling and clinical assessment of these patients.”
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:
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.
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
