Abstract :
WB-S Autosomal Dominant Disorder is the most common genetic disorder.
We report a case of 20 year old with infrequent association of WBS and TOF.
Clinical examination and ECHO confirmed TOF, WB-S was suspected based on
the clinical signs used in the scoring system of WB-S which were described by
AAP(2001)[1], FISH study was performed in this patient because of having
more than 3 clinical signs of WB-S and FISH study showed 7q11.23 deletion
and remains the gold standard laboratory investigation for WB-S.
Keyword :
Tetralogy of Fallot, William Beuren Syndrome, Clinical Diagnosis, Fluroscence In Situ Hybridisation.