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Article

Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.

Human genetics - 1 Feb 1996

Debrus S, Berger G, de Meeus A, Sauer U, Guillaumont S, Voisin M, Bozio A, Demczuk S, Aurias A, Bouvagnet P

Abstract excerpt

Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and in a high percentage of non-syndromic familial cases of conotruncal defects (CTD). CTD account for roughly a fourth to a third of all non-syndromic congenital heart defects (CHD), thus, 22q11 could harbor a...

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PMID: 8566942
DOI: 10.1007/BF02265254

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.PMID 8566942Read ↗

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