logo BDSP

Base documentaire

  1. 22q11 deletions in patients with conotruncal heart defects.

    Article - En anglais


    To ascertain the frequency of 22q11 deletions in a representative population of conotruncal heart defects (CTD) and determine which children are at risk of having a deletion.


    A clinical and laboratory evaluation of 90 children with CTD, including isolated and syndromic cases.


    Fifteen children (17%) were shown to have 22q11 deletions by fluorescence in situ hybridization (FISH) studies with the Oncor probe N25.

    Varying degrees of developmental delay/learning disabilities and facial dysmorphism were common in these children.

    None of the isolated cases without dysmorphism had a deletion.


    22q11 deletions are a significant cause of a specific form of congenital heart disease, CTD.

    It is important to have a high index of suspicion of the 22q11 deletion disorders in children with CTD and other extracardiac manifestations so that the diagnosis can be made early and appropriate interventions implemented.

    Mots-clés Pascal : Chromosome G22 anormal, Chromosome anormal, Aberration chromosomique, Délétion, Fréquence, Etude statistique, Enfant, Homme, Fluorescence, Hybridation, Association, Cardiopathie, Déterminisme génétique, Maladie congénitale, Maladie héréditaire, Biologie moléculaire

    Mots-clés Pascal anglais : Abnormal chromosome G22, Abnormal chromosome, Chromosomal aberration, Deletion, Frequency, Statistical study, Child, Human, Fluorescence, Hybridization, Association, Heart disease, Genetic determinism, Congenital disease, Genetic disease, Molecular biology

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 98-0510451

    Code Inist : 002B12A08. Création : 23/03/1999.