Klinefelter syndrome is a chromosomal aneuploidy characterized by the presence of 1 or more extra X chromosomes in a male karyotype, most commonly leading to karyotype 47,XXY. Approximately one in 1,000 boys is born with an additional X chromosome-47,XXY, the karyotype that causes Klinefelter syndrome. Klinefelter syndrome, the most common sex chromosome abnormality in males; caused by an extra X chromosome. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Patau syndrome (Trisomy 13), caused by an extra chromosome 13. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. karyotype that causes Klinefelter syndrome.1 This karyotype is detected at or before birth in 10 percent of affected boys, and it is found during adulthood in 25 percent of affected Klinefelter syndrome is one of the leading causes of male infertility. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. This karyotype is detected at or before birth in 10 percent of affected boys, and … Klinefelter syndrome causes, facts, karyotype and chromosome, diagnosis, treatment. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. Turner syndrome, caused by missing one X chromosome in females. Klinefelter syndrome (KS), also known as XXY syndrome, is a genetic cause of male infertility.Children born with this genetic disease have an extra X chromosome, hence the name. Chronic myelogenous leukemia, a classic 9;22 translocation that is diagnostic of the disease. If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. Approximately one in 1,000 boys is born with an additional X chromosome—47,XXY, the karyotype that causes Klinefelter syndrome.1 This karyotype … Klinefelter syndrome is a fairly common genetic condition found in males only.. What Is Klinefelter Syndrome? The effects of having an additional chromosome are abnormalities in the normal development of the body, hypogonadism, and male infertility. With treatment and early onset, the majority of us grow up to have successful lives. Virtually all men with Klinefelter syndrome are infertile. Their karyotype is 47,XXY.. Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life.. Klinefelter syndrome is a heterogeneous group of abnormalities of the sex chromosomes, where there is at least one X chromosome in addition to the normal karyotype, 46XY, in males. Klinefelter's syndrome (karyotype 47, XXY) and schizophrenia-spectrum pathology - Volume 189 Issue 5 - Sophie van Rijn, André Aleman, Hanna Swaab, René S. Kahn Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. There is no cure, but treatments are available. A genetic test called a karyotype can definitively diagnose XXY/Klinefelter Syndrome. It is important to start treatment as early as possible during our teenage years. 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