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.
Worthington
S
S
Genetic Services of Western Australia, Princess Margaret Hospital, Subiaco, Western Australia, Australia.
Bower
C
C
Harrop
K
K
Loh
J
J
Walpole
I
I
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