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Article

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.

American journal of medical genetics - 15 Jun 1991

Romano C, Ragusa R M, Scillato F, Greco D, Amato G, Barletta C

Abstract excerpt

We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 5
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 1877615
DOI: 10.1002/ajmg.1320390405

Provenance

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.

Related research

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Phenotypic and phoniatric findings in mosaic cri du chat syndrome.PMID 1877615Read ↗

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.Semantic proximity Read ↗

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Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.Semantic proximity Read ↗

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.Semantic proximity Read ↗

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The natural history of Cri du Chat Syndrome. A report from the Italian Register.Semantic proximity Read ↗

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.Semantic proximity Read ↗

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