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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).
48,XXYY is a sex chromosome variation that affects one in every 17,000 boys who are born.¹. XXYY Syndrome is the name attached to the cluster of symptoms that arise as a result of the 48,XXYY chromosome pattern.
XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infer-tility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features.
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.
What is XXYY Syndrome? 48, XXYY is a sex chromosome variation that affects one in every 17,000 males who are born.1 XXYY Syndrome is the name attached to the cluster of symptoms that arise as a result of the 48, XXYY chromosome pattern, or an extra set of X & Y chromosomes. People of all races and ethnicities can have 48,XXYY.
5 cze 2020 · While the most common Sex Chromosome Aneuploidy (SCA) is 47,XXY, other variations, such as 48,XXYY, are less studied, perhaps due to its rarity. 48,XXYY occurs with an estimated prevalence of 1:18,000–40,000 male births.
48,XXYY syndrome results from a nondisjunction event of sex chromosomes during spermatogenesis or, less often, from post-zygotic mitotic nondisjunction during cell division. There are no known predisposing factors.
