PMID- 9767506
OWN - NLM
STAT- MEDLINE
DCOM- 19981116
LR  - 20190909
IS  - 1034-4810 (Print)
IS  - 1034-4810 (Linking)
VI  - 34
IP  - 5
DP  - 1998 Oct
TI  - 22q11 deletions in patients with conotruncal heart defects.
PG  - 438-43
AB  - 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. METHODOLOGY: 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. 
      CONCLUSION: 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.
FAU - Worthington, S
AU  - Worthington S
AD  - Genetic Services of Western Australia, Princess Margaret Hospital, Subiaco, 
      Western Australia, Australia.
FAU - Bower, C
AU  - Bower C
FAU - Harrop, K
AU  - Harrop K
FAU - Loh, J
AU  - Loh J
FAU - Walpole, I
AU  - Walpole I
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - J Paediatr Child Health
JT  - Journal of paediatrics and child health
JID - 9005421
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Craniofacial Abnormalities/*genetics
MH  - Developmental Disabilities/*genetics
MH  - Female
MH  - Genetic Testing
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Pedigree
MH  - Prevalence
MH  - Risk Factors
EDAT- 1998/10/10 00:00
MHDA- 1998/10/10 00:01
CRDT- 1998/10/10 00:00
PHST- 1998/10/10 00:00 [pubmed]
PHST- 1998/10/10 00:01 [medline]
PHST- 1998/10/10 00:00 [entrez]
AID - 10.1046/j.1440-1754.1998.00262.x [doi]
PST - ppublish
SO  - J Paediatr Child Health. 1998 Oct;34(5):438-43. doi: 
      10.1046/j.1440-1754.1998.00262.x.