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Article

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.

European journal of pediatrics - 1 Nov 1998

Iserin L, de Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D

Abstract excerpt

UNLABELLED: Conotruncal malformations account for about 50% of congenital heart defects diagnosed in newborns. We studied prospectively 104 patients admitted in our neonatal intensive care unit for conotruncal defects by fluorescence in situ hybridization to estimate the prevalence of the interstitial deletion in this category of congenital heart disease. Cardiac phenotypes were: truncus arteriosus (17),...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

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

Share to DiGeorge Syndrome

Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 9835429
DOI: 10.1007/s004310050959

Provenance

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.

Related research

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Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.PMID 9835429Read ↗

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Chromosome 22q11 deletions in patients with conotruncal heart defects.Semantic proximity Read ↗

CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.Semantic proximity Read ↗

The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population‐based studySemantic proximity Read ↗

Investigation of copy number variation in children with conotruncal heart defectsSemantic proximity Read ↗

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.Semantic proximity Read ↗

Genetic background of congenital conotruncal heart defects--a study of 45 families.Semantic proximity Read ↗

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective studySemantic proximity Read ↗

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.Semantic proximity Read ↗

Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.Semantic proximity Read ↗

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

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