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XXYY syndrome is a sex chromosome anomaly in which males have two extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY).
Clinical description. 48,XXYY syndrome is often described as a variant of Klinefelter syndrome (see term) as it shares a similar physical phenotype (tall stature and small, dysfunctional testes), however the medical and neurodevelopmental features are more complex than typically seen in 47,XXY/Klinefelter syndrome.
Medical features in adulthood included hypogonadism (100%), DVT (18.2%), intention tremor (71%) and type II diabetes (18.2%). Brain MRI (n 1⁄435) showed white matter abnormalities in 45.7% of patients and enlarged ventricles in 22.8%.
XXYY Syndrome is the name attached to the cluster of symptoms that arise as a result of the 48,XXYY chromosome pattern. It affects one in every 17,000 boys.
XXYY syndrome is the result of having extra copies of both the X and Y chromosomes, occurring when a normal female oozyte (X m) is fertilized with an aneuploidy sperm (X p Y p Y p) produced from double nondisjunction during meiosis.
14 maj 2008 · We report on the results of a cross-sectional, multi-center study of 95 males age 1–55 with XXYY syndrome (mean age 14.9 years), describing diagnosis, physical features, medical problems, medications, and psychological features stratified by age groups. The mean age of diagnosis was 7.7 years.
