Williams-Beuren Syndrome: A Rare Case from Western India


  • S. N. Gene Laboratory and Research Centre, Molecular Cytogenetic Unit, 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.


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

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