Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Monosomies
Introduction
Overview
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
References
- ↑ “CRC – Glossary M”. Retrieved 2007-12-23.