Monosomy

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Monosomy
Classification and external resources
ICD-10 Q93, Q96
MeSH D009006

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[edit]

Human conditions due to monosomy:

  • Turner syndrome - Women with Turner syndrome typically have one X chromosome instead of the usual two sex chromosomes. Turner syndrome is the only full monosomy that is seen in humans—all other cases of full monosomy are lethal and the individual will not survive development.
  • 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

See also[edit]

References[edit]

  1. ^ "CRC - Glossary M". Archived from the original on 2007-08-08. Retrieved 2007-12-23. 

Monosomy is a genetic defect caused by an incomplete set of chromosomes. Various medical conditions are caused by monosomy, some more severe than others. Along with other genetic defects, monosomy can often be identified during prenatal testing, which is why such testing is recommended for women who are at high risk. It is certainly possible for someone to live a healthy and normal life with monosomy, just as other people may be severely disabled by the condition.