Monosomy

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. 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