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Article

Cri du chat syndrome: changing phenotype in older patients.

American journal of medical genetics - 31 Jan 2000

Van Buggenhout G J, Pijkels E, Holvoet M, Schaap C, Hamel B C, Fryns J P

Abstract excerpt

The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all...

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Identifiers

PMID: 10678657
DOI: 10.1002/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co;2-a

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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