Resumo

VARGAS, Carolina; SALDARRIAGA, Wilmar; PACHAJOA, Harry Mauricio  e  ISAZA, Carolina. Williams-Beuren syndrome: Report of two cases with molecular diagnosis. Colomb. Med. [online]. 2011, vol.42, n.4, pp.523-528. ISSN 1657-9534.

Williams-Beuren syndrome has an estimated incidence of one case in every 10,000 births. It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. This article focuses on the report of two cases, with classic but varied phenotypic findings, of this syndrome for which molecular diagnosis with fluorescent in situ hybridization was available. Additionally, we suggest a protocol for complementary studies needed to characterize each patient.

Palavras-chave : Williams syndrome; Aortic stenosis Supravalvular; Phenotype; Mental retardation; Human chromosomes Pair 7; in situ hybridization fluorescence.

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