Cri du chat syndrome is a genetic disease involving a deletion in the short arm of chromosome 5. This syndrome was first reported in 1963. Frequency of occurrence: 1/100,000 births.
The deletion results in mental and physical retardation (especially of the face), gastrointestinal malformations and abnormal throat structures.
The name comes from the French meaning "cry of the cat" because the crying of affected infants sounds like that of a cat.
The deletion of chromosome segments results in the following:
- 5p25.3 - abnormal larynx (hence the sound of the cry)
- 5p15.2 - mental and physical retardation
