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
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0510451
Code Inist : 002B12A08. Création : 23/03/1999.