Week 12 discussion

Week 12 discussion - Although some case occur when there is...

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Cri du chat syndrome is the result from missing a piece of chromosome 5. The name us based on the cries that come from children affected, which some say sound like a cat's cry.Some of the symptoms inlcude a high pitched cry, the eyes slanting downward, low birth weight and slow growth, low-set or misformed ears, mental retardation, partial webbing of fingers or toes, slow development of motor skills, and having a small head. There are other syptoms that occur in people with Cri du chat syndrome, but these are the basic ones. Cri du chat syndrome is rare. It occurs when there is genetic info missing on chormosome 5. One missing piece, called TERT (telomerase reverse transcriptase) contorls cell growth, and may be resonsible for the features of this disease developing. It is thought that most cases occur when the egg or sperm is developing.
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Unformatted text preview: Although some case occur when there is a rearrangement of chromosome 5 called a translocation which is passed on to the baby. This syndrome may account for up to 1% of individuals with severe mental retardation. There are some other tests that may be done to determine the presence of Cir du chat. Doctor's may look for an inguinal hernia which occurs in the groin. They may also look for separated abdominal muscles, low muscle tone, or extra folds of skin on the inside of the eye. Genetic tesing may be done to determine if there is a missing part of chromosome 5. This will determine wether or not the child has Cri du chat. A head x-ray may also show an abnormal angle at the base of the skull. https://health.google.com/health/ref/Cri+du+chat+syndrome http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm...
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