Chromosome 22q11 microdeletions in tetralogy of Fallot

Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised ch...

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Bibliographic Details
Published inArchives of disease in childhood Vol. 74; no. 1; pp. 62 - 63
Main Authors Trainer, A H, Morrison, N, Dunlop, A, Wilson, N, Tolmie, J
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.01.1996
BMJ Publishing Group LTD
Subjects
Child
Chromosome 22
Chromosome Deletion
Chromosomes, Human, Pair 22 - genetics
Female
Fluorescence in situ hybridization
Humans
In Situ Hybridization, Fluorescence
Male
Pediatrics
Syndrome
Tetralogy of Fallot
Tetralogy of Fallot - genetics
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Summary:Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22q11 FISH studies should therefore be performed on all patients with tetralogy of Fallot.
Bibliography:PMID:8660052
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ISSN:0003-9888
1468-2044
DOI:10.1136/adc.74.1.62