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Article

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

American journal of medical genetics. Part A - 15 Jun 2007

Mosca A L, Callier P, Leheup B, Marle N, Jalloul M, Coffinet L, Feillet F, Valduga M, Jonveaux P, Mugneret F

Abstract excerpt

Constitutional interstitial deletions of 5q are relatively rare and most are poorly characterized cytogenetically. Consequently a definite karyotype-phenotype correlation is difficult to establish. We report on a new case of a girl presenting with an abnormal cry, upslanting palpebral fissures, hypertelorism, anteverted nostrils, microretrognathia, growth retardation, and an adenoid cyst at the base of the...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to EGR1 gene

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 17506096
DOI: 10.1002/ajmg.a.31742

Genes

EGR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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