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Capstone

Early detection of DiGeorge and velocardiofacial Syndromes by screening neonates with congenital heart disease for 22q11 Deletion

1 August 2003

Abstract

With the advent of genetic testing, children with congenital heart anomalies have been screened for 22q11 deletion (Velocardiofacial) syndrome on a frequent basis. However, in a four year retrospective case study done at Oregon Health Sciences University Hospital it was discovered that more children with feeding and hearing abnormalities had a much higher incidence of22qll deletion than did children with cyanotic cardiac disease and that routine screening should be indicated for this population of infants.


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