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Article

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

Journal of medical genetics - 1 Nov 1994

Seaver L H, Pierpont J W, Erickson R P, Donnerstein R L, Cassidy S B

Abstract excerpt

A blind study was designed to test the hypothesis that some persons with a relatively rare cardiac malformation, pulmonary atresia with ventriculoseptal defect (PA/VSD), have a recognisable phenotype. Fourteen patients with cyanotic congenital heart lesions were examined by dysmorphologists blinded to the type of cardiac malformation. Six children were judged to have a similar craniofacial appearance; all had...

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Identifiers

PMID: 7853364
DOI: 10.1136/jmg.31.11.830
PMCID: PMC1016653

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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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Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.PMID 7853364Read ↗

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22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.Semantic proximity Read ↗

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Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literatureSemantic proximity Read ↗

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.Semantic proximity Read ↗

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