XXXY syndrome

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48, XXXY syndrome is a sex chromosome aneuploidy in which males have two extra X chromosomes. 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). The appearance of at least one Y chromosome with a properly functioning SRY gene makes a male. Therefore, XXXY only affects males. Males affected with XXXY syndrome have 48 chromosomes instead of the typical 46. This is why XXXY syndrome is sometimes written as 48, XXXY syndrome. It is estimated that XXXY affects one in every 50,000 male births.[1]

See also

References

  1. ↑ "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". National Center for Biotechnology Information. Retrieved 24 July 2012. 

External links

Pathology: chromosome abnormalities (Q90–Q99, 758)
Autosomal
Trisomies
Monosomies/deletions
X/Y linked
Monosomy
Trisomy/tetrasomy,
other karyotypes/mosaics
Translocations
Leukemia/lymphoma
Lymphoid
Myeloid
Other
Other
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