Genetic changes related to cri-du-chat

This 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; 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.

How common is cri-du-chat syndrome?

Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.

other names of cri-du-chat syndrome

What other names do people use for cri-du-chat syndrome? There are 5 different names for this disease in all over the world. There are:

cat cry syndrome
chromosome 5p- Syndrome
5p deletion syndrome
monosomy 5p
5p- syndrome