What causes Cri Du Chat Syndrome?

zbeckabee

Cri du Chat syndrome (French for Cry or call of the cat referring to the specific cry of the child), also called deletion 5p syndrome, 5p minus or Le Jeune’s syndrome, is a rare genetic disorder due to a missing portion of chromosome 5. http://en.wikipedia.org/wiki/Cri_du_chat_syndrome#Signs_and_symptoms Feb 28 08, 7:54 AM

BaronBatty

Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat. Cri du chat syndrome is rare. It occurs when a piece of information on chromosome 5 is missing. It is likely that multiple genes on chromosome 5 are deleted. One deleted gene, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of this syndrome develop. Most cases are believed occur during the development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation. Between 1 in 20,000 - 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation. http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm Feb 28 08, 7:55 AM