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


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


RESULTS
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.


CONCLUSIONS
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.
Genetic Services of Western Australia, Princess Margaret Hospital, Subiaco, Western Australia, Australia.
S
S
Worthington
C
C
Bower
K
K
Harrop
J
J
Loh
I
I
Walpole
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree; D015995:Prevalence; D012307:Risk Factors