13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.
Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects. We report on a 24-year-old woman with a syndromic form of tetralogy of Fallot who was found to have a novel de novo deletion of the proximal long arm of chromosome 13. History of developmental delay and learning difficulties, mild dysmorphic facial features, and anal atresia prompted genetic investigations. A review of the literature on deletions that overlap this region showed that several were associated with major congenital heart defects. The results suggest that the 13q13.1-q13.2 region may harbour a gene or genes important in cardiac development.
Costain
Gregory
G
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Silversides
Candice K
CK
Marshall
Christian R
CR
Shago
Mary
M
Costain
Nicholas
N
Bassett
Anne S
AS
D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D013771:Tetralogy of Fallot / Q000235:genetics*; D055815:Young Adult