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XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [2] These may include being taller than average and an increased risk of learning disabilities. [1] [2] The person is generally otherwise normal, including typical rates of fertility. [1]
The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally.
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
The symptoms of Klinefelter's syndrome in a human male.. DSDs caused by chromosomal variation generally do not present with genital ambiguity. This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis.
Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The syndrome is exceptionally rare, with only twelve recorded cases. The presentation of the syndrome is heterogeneous, but appears to be more severe than its counterpart XYY syndrome.
NHS. Claus Højbjerg Gravholt, a professor of genetic endocrinology, said it is impossible to state everyone with a Y chromosome is a male and everyone with an X chromosome is a female.
XYYYY syndrome, also known as 49,XYYYY, is an exceptionally rare chromosomal disorder in which a male human has three additional copies of the Y chromosome. Only seven non- mosaic cases of the disorder have ever been recorded in the medical literature, as well as five mosaic cases, of which two had more 48,XYYY than 49,XYYYY cells. [ 1 ]