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.





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.


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.




Latest News and Research

Emory’s Sharron Close Started Clinic for Patients with X & Y Chromosome Variations

AXYS Editor’s Note: AXYS was excited to see this article in the Atlanta Business Chronicle. Dr. Close serves as the chair of the AXYS Professional Advisory Committee and her Atlanta clinic was one of the [...]

Vocal & Gestural Productions of 24-month-old Children with Sex Chromosome Trisomies

Article Title: Vocal and gestural productions of 24-month-old children with sex chromosome trisomies Authors: Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall’Ara, Claudia Rigamonti,Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, and Paola Vizziello Date [...]

Klinefelter Syndrome: More Than Hypogonadism

Article Title: Klinefelter syndrome: more than hypogonadism Authors: George A. Kanakis and Eberhard Nieschlag Date of Publication: February 4, 2018 Read more

Fertility Achieved Through In Vitro Fertilization in a Male Patient with 48,XXYY Syndrome

Article Title: Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome Authors: De‑Feng Liu, Lian‑Ming Zhao, Kai Hong, Jia‑Ming Mao, Yu‑Zhuo Yang, Zhe Zhang, Hui Jiang Date of Publication: October 3, [...]

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