Chromosome 22q11 deletions in patients with conotruncal heart defects.

doi:10.1007/s00246-004-0775-5

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Article

Chromosome 22q11 deletions in patients with conotruncal heart defects.

Pediatric cardiology - 1 Jan 2000

Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N

Abstract excerpt

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus...

Topics

Abnormalities, Multiple
Aortic Coarctation
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 22
DiGeorge Syndrome
Double Outlet Right Ventricle
Female
Heart Defects, Congenital
Heart Septal Defects, Ventricular
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Phenotype
Pulmonary Atresia

Source

Open in PubMed

Identifiers

PMID: 16132309
DOI: 10.1007/s00246-004-0775-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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