XXXX syndrome

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Also known as tetrasomy X or 48, XXX.

XXXX syndrome is an uncommon, sex-linked chromosomal condition found only in females[1].


Due to repeated nondisjunction during meiosis, a mother can produce an ovum containing three or four X chromosomes, rather than the normal number of one. If an ovum containing three X chromosomes is fertilised by a sperm cell also containing an X chromosome, then the offspring will have a total number of four X chromosomes and is said to have XXXX syndrome. The syndrome can also be caused by an X-carrying sperm fertilising an egg containing four X chromosomes, however the fifth X chromosome is lost early in development, resulting in the offspring again inheriting four X chromosomes[2]. The nucleus of a female with XXXX syndrome contains 3 Barr bodies.


Females with XXXX syndrome frequently have problems with infection, their heart, kidneys, palate, movement and joints[3].


  1. N Ayari, A Berge, S Howell, N Tartaglia. Orphanet. Tetrasomy X. 2016. [Available from:]
  2. National Center for Advancing Translational Sciences. Tetrasomy X. 2014. [Available from:]
  3. R Rooman, M Hultén. Unique The Rare Chromosome Disorder Support Group. Tetrasomy X. 2005. [Available from:]
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