Journal of Health Science Research

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Williams-Beuren Syndrome:A Rare Case from Western India


Affiliations
1 Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Near RTO Circle, Ring Road, Surat – 395 001, India
 

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.

Keywords

7q11.23, ELN, FISH, Heart Defects, Williams Beuren Syndrome.
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  • Williams-Beuren Syndrome:A Rare Case from Western India

Abstract Views: 286  |  PDF Views: 93

Authors

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

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.

Keywords


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



DOI: https://doi.org/10.18311/jhsr%2F2016%2F113867