Document
Metadata
Title
A VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOT
Authors
S Kollur, Banashankari
Description
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.
Source
International Journal of Clinical and Biomedical Research; Volume 3, Issue 2; April 2017; 24-26
Publisher
Sumathi Publications
Type
info:eu-repo/semantics/article
Date
2017-04-18
Format
application/pdf
Language
eng
Rights
Copyright (c) 2017 Banashankari S Kollur, M S Mulimani, Timmanna Giraddi, Bomman J V, Shashank Gowda, Anupama Patil, Sushmita Managuli