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Article

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.

Journal of medical genetics - 1 Sept 1991

Ireland M, English C, Cross I, Houlsby W T, Burn J

Abstract excerpt

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

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Share to Abnormalities, Multiple
Share to Chromosome Aberrations
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Chromosomes, Human, Pair 3

Share to Infant, Newborn

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Source

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Identifiers

PMID: 1956066
DOI: 10.1136/jmg.28.9.639
PMCID: PMC1015799

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.

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A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.PMID 1956066Read ↗

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