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Cri du chat syndrome is a rare chromosomal disorder caused by a deletion of genetic material on part of chromosome 5. Other names for the condition are cat cry syndrome and 5p- syndrome. Symptoms can vary depending on the size and area of the deletion of chromosome 5.
73 genes on chromosome 5 have been implicated in human disease. This article describes some of the diseases that can arise from mutations within these genes.
Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems.
Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes.
Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5.
Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder caused by a loss (deletion) in chromosome 5. Symptoms can be different from person to person depending on the exact size and location of the deleted genetic material.
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Explore symptoms, inheritance, genetics of this condition.
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy " or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly occurring, de novo deletion.
Cri-du-chat syndrome is a rare syndrome in which part of chromosome 5 is missing. The size of the missing part varies, and people who have larger deletions are often more severely affected. Symptoms of Cri-du-Chat Syndrome. Symptoms of cri-du-chat syndrome often include a characteristic high-pitched, mewing cry that sounds like a kitten crying.
In a few cases, abnormalities in chromosome 5 have been associated with periventricular heterotopia, a disorder characterized by abnormal clumps of neurons around fluid-filled cavities (ventricles) near the center of the brain.