A VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOT

Journal: International Journal of Clinical and Biomedical Research

Article type: Case Reports

Published: 2017-04-18

Volume: 3; Issue: 2; Pages: 24-26

ISSN: 2395-0471

Article URL: https://journals.sumathipublications.com/article/article-1784652407465-444562441

PDF: https://journals.sumathipublications.com/article/article-1784652407465-444562441.pdf

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Authors

  1. Banashankari S Kollur
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  2. M S Mulimani
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  3. Timmanna Giraddi
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  4. Bomman J V
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  5. Shashank Gowda
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  6. Anupama Patil
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  7. Sushmita Managuli
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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), 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.

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