James Nelson

What is Cri-di-chat?

Cri-du-chat is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is deleted. It is a chromosomal abnormally and was first discovered by doctor Legeune in 1963. This disease does not have an impact on an individuals life expectancy.

What diagnostic tests are preformed to see if an individual has this diorder? Is there any way to prevent this disorder?

There are diagnostic tests that show if an individual has Cri-du-chat. In newborns, the diagnosis of cri du chat syndrome is confirmed by a thorough clinical evaluation, identification of characteristic findings (e.g., cat-like cry) and chromosomal studies (karyotyping) that reveal a deletion on the short arm of chromosome 5.There is no way to prevent this disorder.

How can this disorder be harmful to the body? This disorder cannot hurt you specifically. However, people who have this disorder tend to have self abusive behaviors.


What organizations/support groups are currently in existance to help an individual with this diorder?

The NIH Clinical Center in Bethesda MD, is an organization that is helping patients. Counseling is also recommended.