Cri du chat syndrome

Cri du chat, or Cri-du-chat
Other names
  • Chromosome 5p deletion syndrome
  • 5p− syndrome
  • Lejeune's syndrome
Facial features of a person with Cri du chat syndrome at the age of 8 months (A), 2 years (B),
4 years (C) and 9 years (D)
SpecialtyMedical genetics
CausesChromosomal Mutation

Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5.[1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1]).[2] It was first described by Jérôme Lejeune in 1963.[3] The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.[4]

  1. ^ "Learning About Cri du Chat". www.genome.gov. Retrieved 2015-12-10.
  2. ^ "Cri du Chat Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-12-10.
  3. ^ Lejeune J, Lafourcade J, Berger R, et al. (1963). "[3 Cases of partial deletion of the short arm of chromosome 5]". C. R. Acad. Sci. (in French). 257: 3098–102. PMID 14095841.
  4. ^ Chen, Harold (Apr 21, 2015). "Cri-du-chat Syndrome". Medscape. Retrieved 2015-12-09.