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Alternative NamesChromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome
Definition Return to top
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.
Causes Return to top
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.
Symptoms Return to top
Exams and Tests Return to top
In addition to symptoms, the physical examination may show:
Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal an abnormal angle to the base of the skull.
Treatment Return to top
No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.
Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if one parent has a rearrangement of chromosome 5.
Support Groups Return to top
5p- Society -- www.fivepminus.org
Outlook (Prognosis) Return to top
The outcome varies but mental retardation is usual. Half of those children affected learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.
Possible Complications Return to top
Complications depend on the extent of mental retardation and physical abnormalities. Complications may include:
When to Contact a Medical Professional Return to top
This is a diagnosis that is generally made in the hospital at birth. Your health care provider will discuss the findings with you. On discharge, it's important to maintain regular contact with your health care provider and other caregivers. Genetic counseling and testing is recommended for all persons with a family history of this syndrome.
Prevention Return to top
There is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling.Update Date: 7/1/2007 Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.