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Article

Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.

Human genetics - 1 Jun 1996

Goodart S A, Butler M G, Overhauser J

Abstract excerpt

Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patien...

Topics

Adult
Chromosome Inversion
Chromosomes, Human, Pair 5
Cri-du-Chat Syndrome
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Phenotype

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Identifiers

PMID: 8641700
DOI: 10.1007/BF02346193
PMCID: PMC6715286

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8641700-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.PMID 8641700Read ↗

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“Cri-du-chat” syndrome in a patient born to a mother with a paracentric inversion of chromosome 5qSemantic proximity Read ↗

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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 ↗

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