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C ri-du-chat syndrome (Cry of the cat syndrome)

C ri-du-chat syndrome (Cry of the cat syndrome). By: B-smooth. Genetic disorder. C hromosomal condition that results when a piece of chromosome 5 is missing . It is a deletion disorder. Chromosome graph. Symptoms/effects . cognitive defect, delayed development and difficulty speaking

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C ri-du-chat syndrome (Cry of the cat syndrome)

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  1. Cri-du-chat syndrome(Cry of the cat syndrome) By: B-smooth

  2. Genetic disorder • Chromosomal condition that results when a piece of chromosome 5 is missing. • It is a deletion disorder.

  3. Chromosome graph

  4. Symptoms/effects • cognitive defect, delayed development anddifficulty speaking • long face, macrostomia, and scoliosis are also other effects

  5. Diagnosis • One of the most characteristic features in newborn children is a high-pitched cat-like cry that is usually considered diagnostic for the syndrome

  6. Prognosis • 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.

  7. Treatment • No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.

  8. Current research • Currently, there are no trials specifically investigating cri du chat syndrome. However, there is one study enrolling individuals with chromosomal abnormalities.

  9. Genetic counseling • 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

  10. Graphic

  11. Great storey • 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

  12. credits • http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome • http://www.genome.gov/19517558 • http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/images/cri-du-chat_diagram.gif • http://www.criduchat.asn.au/criduchat/joel.htm

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