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].

Cause

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.

Symptoms

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

References:

  1. N Ayari, A Berge, S Howell, N Tartaglia. Orphanet. Tetrasomy X. 2016. [Available from: http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=390]
  2. National Center for Advancing Translational Sciences. Tetrasomy X. 2014. [Available from: https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x]
  3. R Rooman, M Hultén. Unique The Rare Chromosome Disorder Support Group. Tetrasomy X. 2005. [Available from: http://www.rarechromo.org/html/DisorderGuides.asp]
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