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Cri du chat syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Definition:

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.

Alternative Names:

Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome

Causes, incidence, and risk factors:

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.

• Review Date: 7/1/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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