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Cri du Chat syndrome

Background

Cri du Chat syndrome: Deletion 5p- syndrome; Chromosome 5 Short Arm Deletion

Cri du Chat syndrome is a caused by a deletion of a small piece of chromosome 5 and is estimated to occur in around 1 in 15,000 to 50,000 babies born. Infants with this condition often have a high-pitched cry that sounds like a cat. The condition is characterised by intellectual disability and delayed development, small head size, low birth weight and low muscle tone in infancy. Affected individuals also have distinctive facial features and some children with Cri du Chat syndrome are born with a heart defect (see entry Heart Defects).

What are the symptoms? View What are the symptoms?

Medical text written July 2001 by Professor K Cornish, Canada Research Chair in Neuropsychology and Education, McGill University, Montreal, Canada and Dr D Bramble, Consultant Child and Adolescent Psychiatrist, Nottingham University, Nottingham, UK. Last updated November 2011 by Dr M Suri, Consultant Clinical Geneticist, Nottingham City Hospital, Nottingham, UK.

 

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