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Article

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

American journal of human genetics - 1 Apr 1999

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns J P, Vermeesch J R

Abstract excerpt

Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and...

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Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Artificial, Yeast

Share to Chromosomes, Human, Pair 8

Share to Heart Defects, Congenital

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Source

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Identifiers

PMID: 10090897
DOI: 10.1086/302330
PMCID: PMC1377836

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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