Monosomy

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Monosomy
SpecialtyMedical genetics

Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.[1] Partial monosomy occurs when a portion of one chromosome in a pair is missing.

Human monosomy[edit]

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
  • 17q12 microdeletion syndrome - a partial monosomy caused by a deletion of part of the long arm of chromosome 17

See also[edit]

References[edit]

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

External links[edit]

Classification