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Article

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.

American journal of medical genetics. Part A - 1 Jan 2013

Guimiot F, Dupont C, Fuentes-Duarte A, Aboura A, Bazin A, Khung-Savatovsky S, Tillous-Borde I, Delezoide A-L, Azancot A

Abstract excerpt

We report on the first prenatally diagnosed interstitial 8p23.1 maternally inherited deletion. At 20 weeks of gestation (WG) the fetus was diagnosed with a complete atrioventricular canal. In infancy, the mother underwent a two-step cardiac surgery for an interrupted aortic arch type A associated to an inlet ventricular septal defect (VSD). A straddling of the tricuspid valve type B was confirmed during surgery....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23239632
DOI: 10.1002/ajmg.a.35690

Genes

GATA4

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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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