Cri Du Chat Syndrome

Lindsey Kim

Cri Du Chat is the loss or deletion of a significant portion of the

genetic material from the short arm of one of the pair of number five

chromosomes.

CDC is a relatively rare genetic condition where it is estimated that 1:25,000 to 1:50,000 births

are being diagnosed with CDC.

History

• In 1963, Le Jeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-.1 (basically CDC.)

Most cases of cri du chat syndrome are not inherited or passed down among families. Just a random

deletion occurs.

How it is diagnosed…

Doctors most often identify cri-du-chat by the infant's cat-like cry.

Other signs are microcephaly, poor muscle tone, and mental retardation. It is also possible to test for cri-du-

chat (and other chromosomal abnormalitites) while the baby is still

in its mother's womb. They can either test a tiny sample of tissue

from outside the sac where the baby develops (chorionic villus sampling (CVS)), or they can test a sample of the amniotic fluid (amniocentesis).

"Cri du Chat" is French for "cat's cry"

The most distinctive characteristic about CDC is the distinctive high-pitched, monotone, cat-like cry.

http://www.criduchat.asn.au/criduchat/Images/babycryb.wav

Symptoms:

Treatments

• Although there is no real treatment for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.

Works Cited

“Cri Du Chat.” emedicine. N.p., n.d. Web. 12 Nov. 2009. <http://emedicine.medscape.com/ article/ 942897-overview>.

“Cri Du Chat.” GHR. N.p., n.d. Web. 12 Nov. 2009. <http://ghr.nlm.nih.gov/ condition=criduchatsyndrome>.

“Cri Du Chat.” Natural Standard. N.p., n.d. Web. 12 Nov. 2009. <http://www.naturalstandard.com/ index-abstract.asp?create-abstract=/ monographs/

conditions/ condition-criduchat.asp>.

“Cri Du Chat.” Nlm. N.p., n.d. Web. 12 Nov. 2009. <http://www.nlm.nih.gov/ medlineplus/ ency/ article/ 001593.htm>.

“Cri Du Chat.” Rare Diseases. N.p., n.d. Web. 12 Nov. 2009. <http://rarediseases.about.com/ cs/ criduchatsynd/ a/ 010704.htm>.

Learn Genetics. Cri du Chat, n.d. Web. 12 Nov. 2009. <http://learn.genetics.utah.edu/ content/ disorders/ whataregd/ cdc/>.