Cri du chat syndrome
Other Names for this Disease
- 5p deletion syndrome
- 5p minus syndrome
- 5p- syndrome
- Cat cry syndrome
- Chromosome 5p deletion syndrome
On this page
Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.
The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.
- Cri-du-chat syndrome. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome. Accessed 4/7/2014.