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1. Defining the Deletion Size in Williams-Beuren Syndrome by Fluorescent In Situ Hybridization with Bacterial Artificial Chromosomes

Author

Clémence Chabay-Vichot, Nathalie Douet-Guilbert, Philippe Parent, Frédéric Morel, Séverine Audebert-Bellanger, Marie-Josée Le Bris, Clément Bovo, Nadia Guéganic, Marc De Braekeleer, and Audrey Basinko

Subjects
Genetics, Dental anomalies, Bacterial artificial chromosome, Williams-beuren syndrome, Unusual facial appearance, congenital, hereditary, and neonatal diseases and abnormalities, In situ hybridization, Biology, Gene deletion, humanities, stomatognathic diseases, In patient, cardiovascular diseases, Supravalvular aortic stenosis
Abstract

Williams-Beuren syndrome (WBS, MIM No. 194050) is a contiguous gene deletion syndrome that was described independently by Williams et al. (1961) in patients with supravalvular aortic stenosis, growth retardation and an unusual facial appearance (Williams et al., 1961) and by Beuren et al. (1962) in patients having the same features as well as dental anomalies and friendly personality (Beuren et al., 1962).

Published
2011

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