Looking for answers? We can help.

Pregnancy is a time of such intense natural emotion that a couple’s additional concern about a possible genetic condition in their child deserves all the attention and support it can be given. That’s why we take special care at AXYS to provide expectant parents with as much information and support as we can. We hope you will find many helpful resources and links on these pages while also feeling free to contact us directly for additional assistance.

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

47,XXY

47,XYY

47,XXX

48,XXYY

Other Variations

Frequently Asked Questions

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.

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.

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.

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.

pregnant

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

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Latest News and Research

The Challenges of Klinefelter’s

"The Klinefelter Syndrome: Current Management and Research Challenges"—From the scientific journal, Andrology, this article summarizes the concluding “Round Table Discussion” of the 2nd International Workshop on the Klinefelter Syndrome in Munster, Germany, March, 2016. Topics [...]

A Klinefelter Update for Pediatricians

"Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome"—This nearly 30-page story in the journal Advances in Pediatrics is directed at pediatricians and family physicians who treat children, and who may thus come across [...]

The Triple X Syndrome Phenotype

"Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis" —This cross-sectional study was published in the American Journal of Medical Genetics. It describes the diagnosis, physical aspects, medical problems, and neurodevelopmental [...]

Exploring Klinefelter Syndrome

"The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults" — This research article examines the medical, psychological, and social challenges that arise in individuals with 47,XXY as well as providing practical [...]

For a library of past news items, click here.