Cri du chat syndrome
Alternate Names : Chromosome 5p deletion syndrome, 5p minus syndrome, Cat cry syndrome
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.
Overview, Causes, & Risk Factors
Cri du chat syndrome is rare. It happens when genetic information on chromosome 5 is missing. One missing piece, 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 to occur during the development of the egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation and passing this on to the baby.
This syndrome may account for up to 1% of individuals with severe mental retardation.
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