Cri-du-Chat Syndrome

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What is cri-du-chat syndrome?

Cri-du-chat (cat's cry) syndrome, also known as 5p- syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by mental retardation and delayed development, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Some children with cri-du-chat syndrome are also born with a heart defect.

How common is cri-du-chat syndrome?

Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds and is slightly more common in females.

What are the genetic changes related to cri-du-chat syndrome?

Cri-du-chat syndrome is a chromosomal condition related to chromosome 5.

The CTNND2 gene is associated with cri-du-chat syndrome.

Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe mental retardation and developmental delay than smaller deletions in people with cri-du-chat syndrome.

The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe mental retardation in some people with this condition. They are working to identify additional genes in this region and determine how their loss contributes to the characteristic features of cri-du-chat syndrome.

Can cri-du-chat syndrome be inherited?

Most cases of cri-du-chat syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.

About 10 percent of people with cri-du-chat syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any medical problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in birth defects and other health problems characteristic of this disorder.

Source: National Institutes of Health

New findings in cri-du-chat syndrome described by A.L. Mosca and co-researchers

"We report on a new case of a girl presenting with an abnormal cry, upslanting palpebral fissures, hypertelorism, anteverted nostrils, microretrognathia, growth retardation, and an adenoid cyst at the base of the tongue. The first suspected diagnosis was cri-du-chat syndrome because of the mewing cry. Standard cytogenetic analyses were interpreted as normal, but FISH studies using the probe of cri-du-chat syndrome with the control probe EGR1 (5q31.2)/D5S23 (Abbott) revealed a 5q31.2 microdeletion which was then confirmed by CGH-array (Abbott). FISH studies using PACs and BACs clones (Rocchi, Italia) enabled Lis to characterize the breakpoints of the deleted region. Cytogenetic analysis with FISH studies revealed a normal karyotype with normal 5q31 region in both parents," wrote A.L. Mosca and colleagues.

The researchers concluded: "This case is compared with the other cases reported in the literature."

Mosca and colleagues published their study in American Journal of Medical Genetics Part a (Fortuitous FISH diagnosis of an interstitial microdeletion (5)(Q31.1q31.2) in a girl suspected to present a Cri-Du-Chat syndrome. American Journal of Medical Genetics Part a, 2007;143A(12):1342-1347).

For additional information, contact A.L. Mosca, CHU Bocage, Laboratory Cytogenet, 2 Blvd. Marechal Lattre Tassigny, Batiment B2, 2eme, F-21034 Dijon, France.

Publisher contact information for the American Journal of Medical Genetics Part a is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA.

Keywords: France, Dijon, Cri-du-Chat Syndrome, Genetics.

This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.