2026-01-102026-01-102017-04-18https://repos.sumathipublications.com:8000/handle/123456789/139WB-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), 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. KEYWORDS: Tetralogy of Fallot; William Beuren Syndrome; Clinical Diagnosis; Fluroscence In Situ Hybridisation.application/pdfCopyright (c) 2017 Banashankari S Kollur, M S Mulimani, Timmanna Giraddi, Bomman J V, Shashank Gowda, Anupama Patil, Sushmita ManaguliA VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOTinfo:eu-repo/semantics/article