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Article

Molecular-cytogenetic detection of a deletion of 1p36.3.

Journal of medical genetics - 1 Apr 1997

Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, Vergnaud G, Flint J

Abstract excerpt

We report a deletion of 1p36.3 in a child with microcephaly, mental retardation, broad forehead, deep set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. The phenotype is consistent with that described for partial monosomy for 1p36.3. Reverse chromosome painting and microsatellite and Southern blot analyses were used to map the extent of the deletion. Fluorescence in situ...

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Source

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Identifiers

PMID: 9138156
DOI: 10.1136/jmg.34.4.314
PMCID: PMC1050919

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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