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Cri Du Chat Syndrome

In: Science

Submitted By lizgrimm
Words 383
Pages 2
Group Project Makeup
29 November 2012
Cri Du Chat Cri Du Chat Syndrome is a rare genetic disorder caused by a deletion of genetic material in the small arm (the p arm) of chromosome 5. In most cases, this deletion occurs when the sperm or egg cell is developing. It is such a rare deletion that it is very unlikely for it to happen again if the parents were to have another child. The parent does not have to have the disorder in order for the child to get it, although it is possible for a child to inherit this broken chromosome from a parent with Cri Du Chat. The name is French for “cry of the cat,” in reference to the distinctive cry of children with this disorder. The cry comes from abnormal larynx development which is one of the many symptoms associated with this disease. Babies with this disorder are usually born with more problems such as a low birth weight and weak muscle tone. Individuals with Cri Du Chat have very distinctive facial features including a small head, an unusually round face, a small chin, widely set eyes, folds of skin over their eyes, and a small bridge of the nose. In rare cases, children may have heart defects, muscular or skeletal problems, and hearing or sight problems. As they grow, people may have problems with speech and walking. Behavior problems like hyperactivity, aggression, and mental retardation are common. Life expectancy is normal. There is no specific treatment for these problems. An ongoing support team made up of parents, therapists, and medical and educational professionals to help the child reach his or her maximum potential is the most help possible. Current research of this syndrome is for locating and identifying the critical genes responsible for the various features. Researchers in the field of behavior are still working to assess and describe the different aspects of development and behavior which characterize this syndrome. The long-term goal is to more accurately target the available therapy programs so that children with Cri Du Chat can reach their full potential. Also, it is hoped that the varying genotypes will be discovered so that geneticist will be able to predict how severely a child will be affected in their development and growth.…...

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