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Published byBarnard Claude Hill Modified over 9 years ago
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By: B-smooth
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Chromosomal condition that results when a piece of chromosome 5 is missing. It is a deletion disorder.
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cognitive defect, delayed development and difficulty speaking long face, macrostomia, and scoliosis are also other effects
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One of the most characteristic features in newborn children is a high-pitched cat-like cry that is usually considered diagnostic for the syndrome
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What can be expected varies, but mental retardation is usual. Half of children with Cri du chat syndrome learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.
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No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.
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Currently, there are no trials specifically investigating cri du chat syndrome. However, there is one study enrolling individuals with chromosomal abnormalities.
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Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if one parent has a rearrangement of chromosome 5
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Joel is a happy and loving little boy who loves people, and loves to be the centre of everyone’s attention. He loves to laugh and make us laugh – with things like his “monkey face” and his “crazy- man dance”. He loves our dogs, going swimming, balls, balloons, ice cream, and the Teletubbies. He hates the feel of grass. He rarely complains about anything, and just has a beautiful nature. He’s such a good little boy, and is adored by everyone who has the pleasure of knowing him. http://www.criduchat.asn.au/criduchat/joel.htm
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http://ghr.nlm.nih.gov/condition/cri-du-chat- syndrome http://www.genome.gov/19517558 http://learn.genetics.utah.edu/content/disord ers/whataregd/cdc/images/cri-du- chat_diagram.gif http://www.criduchat.asn.au/criduchat/joel. htm
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