Cri-Du-Chat Research Paper

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What are the symptoms?
• Symptoms of Cri-du-chat include a high-pitched cry, small head size, widely-spaced eyes, weak muscle tone, low birth weight, and mental retardation. People who was this disease have a difficult time learning verbal skills. They use short sentences and basic words to express themselves. Other symptoms include delays in walking, scoliosis, and hyperactivity. The symptom of a high-pitched cry normally disappears at age two.

What is Cri-du-chat? What causes it?
• Cri-du-chat is a rare genetic disorder discovered by Jerome Lejeune in 1963. It is caused by the deletion of genetic material on chromosome five, an autosomal chromosome. The deletion occur on the "p" arm of the chromosome. Scientists do not know the reason why this chromosome deletion occurs. …show more content…

Is there treatment or a cure? Can it be prevented?
• This disease is usually diagnosed at birth and a cat-like cry is usually the diagnostic for this disease. Prenatal testing can be done. Chorionic villus sampling and Amniocentesis can diagnose this disease with 98-99% accuracy. It is expensive and around 2,000 to 3,000 dollars. In addition, it can be detected with an ultra-sound or a fetal chromosomal analysis, which are easier ways to diagnose Cri-du-chat. A person with this disease can live a normal lifespan, but there is no cure for this disease. Cri-du-chat cannot be prevented, but scientists are currently researching ways to prevent

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