Approximately one in 1,000 boys is born with an additional X chromosome-47,XXY, the karyotype that causes Klinefelter syndrome. 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. 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 (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. 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. 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. Virtually all men with Klinefelter syndrome are infertile. Klinefelter syndrome is a fairly common genetic condition found in males only.. What Is Klinefelter Syndrome? Their karyotype is 47,XXY.. Approximately one in 1,000 boys is born with an additional X chromosome—47,XXY, the karyotype that causes Klinefelter syndrome.1 This karyotype … A genetic test called a karyotype can definitively diagnose XXY/Klinefelter Syndrome. Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. 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 The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Turner syndrome, caused by missing one X chromosome in females. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. This karyotype is detected at or before birth in 10 percent of affected boys, and … Klinefelter syndrome is one of the leading causes of male infertility. The effects of having an additional chromosome are abnormalities in the normal development of the body, hypogonadism, and male infertility. Klinefelter's syndrome (karyotype 47, XXY) and schizophrenia-spectrum pathology - Volume 189 Issue 5 - Sophie van Rijn, André Aleman, Hanna Swaab, René S. Kahn 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. Chronic myelogenous leukemia, a classic 9;22 translocation that is diagnostic of the disease. Klinefelter syndrome, the most common sex chromosome abnormality in males; caused by an extra X chromosome. Patau syndrome (Trisomy 13), caused by an extra chromosome 13. With treatment and early onset, the majority of us grow up to have successful lives. Klinefelter syndrome causes, facts, karyotype and chromosome, diagnosis, treatment. 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. There is no cure, but treatments are available. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. It is important to start treatment as early as possible during our teenage years. Increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren 's syndrome chromosome females... Who have Klinefelter syndrome also have an increased risk for autoimmune disorders as. 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