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Article

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

European journal of medical genetics - 1 Jan 2000

Laczmanska Izabela, Stembalska Agnieszka, Gil Justyna, Czemarmazowicz Halina, Sasiadek Maria

Abstract excerpt

A cytogenetic analysis was performed on an 8-day-old girl, who was suspected of Cri du chat syndrome (CdCS) on the basis of a cat-like cry, despite her dysmorphic features not being characteristic of this syndrome. The cytogenetic analysis revealed a partial deletion of the short arm of chromosome 5, but did not allow precise specification of the break points. Fluorescence in situ hybridization (FISH) analysis,...

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

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Source

Identifiers

PMID: 16473315
DOI: 10.1016/j.ejmg.2005.04.023

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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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Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.PMID 16473315Read ↗

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.Semantic proximity Read ↗

Cri du Chat syndrome.Semantic proximity Read ↗

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.Semantic proximity Read ↗

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.Semantic proximity Read ↗

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).Semantic proximity Read ↗

Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion.Semantic proximity Read ↗

Mosaic cri-du-chat syndrome in a girl with a mild phenotype.Semantic proximity Read ↗

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.Semantic proximity Read ↗

[Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH].Semantic proximity Read ↗

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome.Semantic proximity Read ↗

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 ↗

Inverted duplication with terminal deletion of 5p and no cat-like cry.Semantic proximity Read ↗

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