pediatrics
Chromosomal Deletion Syndromes
5p syndrome (5p minus syndrome or cri du chat syndrome)
Deletion of the end of the short arm of chromosome 5 (5p minus, usually paternal) is characterized by a high-pitched, mewing cry, closely resembling the cry of a kitten, which is typically heard in the immediate neonatal period, lasts several weeks, and then disappears. However, not all affected neonates have this unusual cry. Affected neonates are hypotonic and have low birth weight, Microcephaly , a round face with wide-set eyes, downward slanting of the palpebral fissures (with or without epicanthal folds), Many affected children survive into adulthood but have significant disability. 