Williams-Beuren Syndrome: A Rare Case from Western India

Authors

  • Pankaj K. Gadhia Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Near RTO Circle, Ring Road, Surat – 395 001
  • Salil N. Vaniawala Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Near RTO Circle, Ring Road, Surat – 395 001

DOI:

https://doi.org/10.18311/jhsr/2016/v1/i1/839

Keywords:

7q11.23, ELN, FISH, Heart Defects, Williams Beuren Syndrome.

Abstract

Williams-Beuren Syndrome (WBS) also known as Williams Syndrome (WS) is a rare multisystem genetic disorder having incidence of 1 in 20,000 to 50,000 live births. WS caused by deletion of 26 - 28 contiguous genes including elastin (ELN) on chromosome 7q11.23. It is characterized by congenital heart defects, skeletal and renal anomalies. We report herein two rare cases of WS (One male and one female) from Western India varying clinical presentation. The confirmation was carried out by cytogenetic analysis and FISH test.

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Author Biography

Pankaj K. Gadhia, Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Near RTO Circle, Ring Road, Surat – 395 001

Molecular Cytogenetic Unit

Research Scientist and Advisor

Published

2016-06-24
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How to Cite

1.
Gadhia PK, Vaniawala SN. Williams-Beuren Syndrome: A Rare Case from Western India. J Health Sci Res [Internet]. 2016Jun.24 [cited 2023Feb.22];1(1):1-3. Available from: https://jhsronline.com/index.php/jhsr/article/view/9

Issue

Volume 1, Issue 1, 2016

Section

Original Articles

Copyright (c) 2016 Pankaj K. Gadhia, Salil N. Vaniawala

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.