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Unlike many conditions that have obvious, defined symptoms well-known to physicians and the general population, X and Y chromosome variations often affect people only subtly, with mild and mysterious symptoms that are often dismissed as normal developmental variations or individual quirks. This can delay diagnosis for years, much to the frustration of those who experience them.
Being diagnosed with a genetic condition as an adult can be a highly distressing experience. But for many people, it can also come as a profound relief. Finally, they have an answer to the questions that have simmered in their lives about feeling different, with challenges that did not seem to affect other family members or their peers.
At AXYS, we also know that a diagnosis can act as a springboard to new knowledge, new perspective, and a new resolve for you to finally obtain the support you need to make the most of your life. Whether you were diagnosed just recently or years ago and are still sorting out the implications, you can always expand your knowledge base and arm yourself with new tools and approaches to addressing your condition. Over the years, we have seen countless people find their way forward and accomplish more than they thought was possible before their diagnosis.
Toward that end, the entire AXYS community stands ready to assist you in all the ways described in this website. Whether you gain knowledge from what you read here, the conversations taking place at clinics and conferences or daily on our Facebook page, or via live support on our toll-free phone line (888-999-9428), you can rest assured that others are available and supportive of your desire to lead a productive and rewarding life.
Frequently Asked Questions
No. The extra chromosomes in these conditions result from an error in cell division when an egg or sperm is formed, or after fertilization. Males have one X chromosome and females have two, so both the mother and father can contribute an extra X. Since females lack any Y chromosomes, only males can contribute an extra Y to their child. In 48,XXYY, the error in cell division occurs when the sperm is formed. The father contributes the extra X and Y chromosomes, in all cases.
“I always struggled in school, especially in reading. But a lot of kids were in the same boat so I didn’t stand out too much. I made it through high school and even some college before I got a job. But social life was never easy for me and I carried a lot of self-esteem issues into adulthood. Finally, my doctor suggested the possibility of testing to rule out any organic causes, and I was amazed to find out I have Trisomy X. It was more a feeling of relief than anything else. A lot of puzzle pieces fell into place that day.”
Latest News & Research
"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 [...]
"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 [...]
"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 [...]