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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Friday, March 19, 2010
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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Friday, March 19, 2010
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Inherited Disorders and Birth Defects |
Cri du chat syndrome03/02/2004 |
what are some symptoms of cri du chat syndrome?
Cri du chat (cat cry) or 5p- syndrome is a genetic disorder where the person is missing a small part of the short arm of chromosome number 5. Chromosomes are the structures in all of our cells that carry DNA that instructs the body how to form, function and grow. There are 46 chromosomes in each cell of the body. You inherit half of your chromosomes from your mother and half from your father. On a rare occasion, a piece of a chromosome can break off and be lost at conception – this is usually the case in 5p- syndrome. Babies born with 5p- syndrome may have a high pitched cry, usually are small at birth, have poor muscle tone and a small head (microcephaly). Children with 5p- usually grow slowly. Mental retardation is also seen. While not common, some children will have a congenital heart defect and there can other problems such as a cleft lip and palate or other organ involvement. The website listed below has additional information about 5p- syndrome.
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Anne Matthews, RN, PhD Director, Genetic Counseling and Family Studies Associate Professor Department of Genetics School of Medicine Case Western Reserve University |
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