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48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
By that time, three men with XXYY syndrome had been reported. [ 16 ] 49,XXXYY was one of the later sex chromosome aneuploidies to be discovered, being preceded by Turner , [ 17 ] Klinefelter , [ 18 ] and trisomy X [ 19 ] in 1959, XXYY syndrome in 1960, [ 20 ] and XYY [ 21 ] and tetrasomy X [ 22 ] in 1961.
This syndrome, evenly distributed in all ethnic groups, has a prevalence of approximately four subjects per every 10,000 (0.04%) males in the general population. [ 35 ] [ 64 ] [ 65 ] [ 66 ] However, it is estimated that only 25% of the individuals with Klinefelter syndrome are diagnosed throughout their lives. [ 50 ]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. ... XXYY syndrome : X, Y 1:18,000-40,000 males
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.
Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome; Hypotrichosis–lymphedema–telangiectasia syndrome; Hystrix-like ichthyosis–deafness syndrome
A 29-year-old man’s debilitating night terrors were the first sign of rare autoimmune disorder that rapidly progressed, landing him in the intensive care unit in a “catatonic state.” Ben ...
XXXY syndrome is therefore often referred to as 48,XXXY. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility. [2] [3] This syndrome is usually inherited via a new mutation in one of the parents' gametes, as those affected by it are usually infertile. It is ...