[10] the complications commonly include infertility and small, poorly functioning testicles (if present). 47,xxy (klinefelter syndrome) is a chromosomal variation in males where one extra x chromosome is present which then results in a 47,xxy The extra x chromosome typically affects physical, neurodevelopmental, behavioral and neurocognitive functioning. Klinefelter syndrome description klinefelter syndrome, also called 47,xxy, is a chromosomal condition that affects male development The signs and symptoms of klinefelter syndrome vary In some cases, the features are so mild that the condition is not diagnosed until puberty or adulthood.
48,xxxy or 48,xxyy), structurally abnormal x chromosome (e.g 47,xxy/46,xy) make up approximately in the remaining 10. Key points klinefelter syndrome (ks) Longer cag repeats in androgen receptor gene correlate with severity May have cryptorchidism, micropenis, hypospadias The remaining 10% of individuals have karyotypes that contain additional x chromosomes (ie, 48,xxxy and 49,xxxxy) or mosaicism consisting of 2 or more cell lines.9 most individuals with 47,xxy mosaicism have an xy cell line (eg, 47,xxy/46,xy), typically in conjunction with a less pronounced phenotype and are diagnosed at a later age, often.
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