XXXY syndrome

XXXY syndrome
Other names48,XXXY syndrome[1]
Symptomscognitive and behavioral problems, taurodontism, infertility
Frequencyabout 1 in 50,000[2]

XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals have two extra X chromosomes.[3] People in most cases have two sex chromosomes: an X and a Y or two X chromosomes. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. Because of this, XXXY syndrome only affects males. The additional two X chromosomes in males with XXXY syndrome causes them to have 48 chromosomes, instead of the typical 46. 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.[3][2] 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 estimated that XXXY affects one in every 50,000 male births.[2]

  1. ^ "XXXY syndrome". The Genetic and Rare Diseases Information Center (GARD). NIH. 10 August 2016. Retrieved 19 March 2019.
  2. ^ a b c Cite error: The named reference :0 was invoked but never defined (see the help page).
  3. ^ a b Cite error: The named reference :15 was invoked but never defined (see the help page).
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