Sunday, April 12, 2009

Deletion 5p–: Cri-du-chat syndrome

In 1963, Lejeune and his co-workers in Paris described
children with a partial deletion of the
short arm of a chromosome 5 (5p–) and retarded
mental and physical development.
About 15% of the parents show a translocation
of chromosome 5. In these cases, the risk of recurrence
of the disorder is increased. Affected
infants have prolonged, high-pitched crying resembling
that of a kitten (cri-du-chat, cat cry).

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