Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.

doi:10.1016/s0022-3476(96)70186-5

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Article

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.

The Journal of pediatrics - 1 Jul 1996

Webber S A, Hatchwell E, Barber J C, Daubeney P E, Crolla J A, Salmon A P, Keeton B R, Temple I K, Dennis N R

Abstract excerpt

OBJECTIVES: To assess the incidence of microdeletions of chromosomal region 22q11 in a population of infants coming to a regional pediatric cardiac center with selected abnormalities of the ventricular outflow tracts and aortic arch and, further, to provide phenotypic/genetic correlations to dete...

Topics

Aorta, Thoracic
Chromosome Deletion
Chromosomes, Human, Pair 22
DiGeorge Syndrome
Heart Defects, Congenital
Heart Septal Defects, Ventricular
Humans
Hypocalcemia
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Karyotyping
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prospective Studies

Pulmonary Atresia

Pulmonary Valve Stenosis

Tetralogy of Fallot

Source

Open in PubMed

Identifiers

PMID: 8757559
DOI: 10.1016/s0022-3476(96)70186-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8757559-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.