Welcome to AXYS.
AXYS, the Association for X and Y Chromosome Variations, is an advocacy, education and support organization for individuals with X and Y chromosome variations and their families. This includes those with Klinefelter syndrome (47,XXY), Trisomy X (47,XXX), 47,XYY, 48,XXYY, 48,XXXY and related genetic conditions.
The mission of AXYS is to help individuals with one or more extra X and/or Y chromosomes and their families to lead fuller, more productive lives.
AXYS fulfills this mission through:
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Support geared to the needs of individuals, their families, and the professionals who serve them
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Education that provides current, scientifically accurate information to our constituents and to the public
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Promoting research that advances knowledge of the field
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Improving treatment options and access for those affected by the conditions
Resources
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 [...]
News
Four Common Questions
X&Y chromosome variations refers to conditions in which a person has an atypical number of sex chromosomes, also known as X&Y chromosomes. Other words used to describe X&Y chromosome variations are “sex chromosome anomaly,” “sex chromosome abnormality” and “sex chromosome aneuploidy.” Males usually have one X and one Y chromosome, and females usually have two X chromosomes. Occasionally, because of problems with the formation of a parent’s sperm or egg, or due to errors in cell division after the embryo is fertilized, a child can be born with extra or too few sex chromosomes.
Children are born with X&Y chromosome variations, but these conditions are typically not inherited. Instead, they are caused by a problem in the division of the X and Y chromosomes during the formation of a parent’s egg or sperm, or by errors in cell division after the embryo is fertilized. The exact cause is unknown.
The most common variations involve a trisomy, which means three sex chromosomes instead of the typical two. Girls who are born with an extra X chromosome are referred to as having Triple X or Trisomy X. Boys who are born with an extra X chromosome have 47,XXY, also known as Klinefelter syndrome. And boys who are born with an extra Y chromosome have 47,XYY, occasionally referred to as Jacob’s syndrome. In addition, there are a number of other X and/or Y conditions including 48 or 49 chromosomes. These include 48,XXXX, 48XXXY, 48XXYY and 48XYYY; and although increasingly rare, also 49XXXXX, 49XXXXY, 49XXXYY, 49XXYYY and 49XYYY. Some individuals may have two cell lines, which is called mosaicism, such as 46,XY/47,XXY.
Approximately 1 in 400-500 live births involves a baby with fewer or more than the typical two sex chromosomes. Researchers estimate that between 10% and 30% of all fertilized human eggs have either more or fewer than 46 chromosomes. These account for approximately one-third of all miscarriages. Variations in the number of chromosomes is the leading known cause of pregnancy loss. X and Y chromosome variations, however, are quite survivable. Although the rate of fetal demise of pregnancies involving X and Y chromosome variation is slightly higher than average, most of these pregnancies come to term. The exception is Turner syndrome, which affects females with only one X chromosome. The majority of these fetuses are miscarried.