Monosomy

Monosomy
Specialty	Medical genetics

Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair. Partial monosomy occurs when a portion of one chromosome in a pair is missing.

Human monosomy

Human conditions due to monosomy:

• Turner syndrome – People 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 arm of chromosome 5
• 1p36 deletion syndrome – a partial monosomy caused by a deletion at the end of the short arm of chromosome 1

See also

• Anaphase lag
• Miscarriage