Monosomy

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Monosomy
ICD-10 Q93, Q96
MeSH D009006

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Overview

Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair.[1] Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies.

Human monosomy

Human conditions due to monosomy:

  • Turner syndrome - Women with Turner syndrome typically have one X chromosome instead of the usual two. Turner syndrome is the only full monosomy that is seen in humans.
  • Cri du chat syndrome -- (French for "cry of the cat" after the distinctive noise by affected persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short p (from the word petit, French for small) arm of chromosome 5
  • 1p36 Deletion Syndrome -- a partial monosomy caused by a deletion at the end of the short p arm of chromosome 1

References

  1. "CRC - Glossary M". Retrieved 2007-12-23.



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