FLUORESCENT IN-SITU HYBRIDIZATION (FISH) FOR HEMIZYGOTIC DELETION AT THE ELASTIN LOCUS IN PATIENTS WITH ISOLATED SUPRAVALVULAR AORTIC-STENOSIS

Both Williams syndrome and isolated supravalvular aortic stenosis (SVA S) are caused by mutations at the elastin locus. Deletion demonstrable by FISH is the hallmark of Williams syndrome, whereas the mutations r eported so far in SVAS have been more subtle. FISH positive elastin he mizygosity has not been reported in isolated SVAS. This report records our experience of FISH for elastin deletion in isolated SVAS and spec ifically reports a patient with non-Williams related SVAS, positive fo r the elastin deletion by FISH.