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Revista Colombia Médica
Universidad del Valle - Facultad de Salud
ISSN: 0120-8322
EISSN: 1657-9534
Vol. 42, No. 4, 2011, pp. 523-528
Bioline Code: rc11080
Full paper language: English
Document type: Research Article
Document available free of charge

Revista Colombia Médica, Vol. 42, No. 4, 2011, pp. 523-528

 en
Vargas, Carolina; Saldarriaga, Wilmar; Pachajoa, Harry Mauricio & Isaza, Carolina

Abstract

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.

Keywords
Williams syndrome; Aortic stenosis Supravalvular; Phenotype; Mental retardation; Human chromosomes Pair 7; in situ hybridization fluorescence.

 
 es Síndrome de Williams-Beuren: Informe de dos casos con diagnóstico molecular
Vargas, Carolina; Saldarriaga, Wilmar; Pachajoa, Harry Mauricio & Isaza, Carolina

Resumen

El síndrome de Williams-Beuren , tiene una incidencia de 1 caso por cada 10,000 nacimientos, es causado por la deleción de un fragmento del brazo largo del cromosoma 7, que contiene varios genes candidatos como responsables del fenotipo del síndrome, el cual consiste en facies típicas, estenosis aórtica supravalvular y retardo mental variable con una personalidad amistosa. Se informa dos casos de síndrome de Williams-Beuren con hallazgos fenotípicos clásicos pero variados; se confirmó el diagnóstico a través de FISH y se propone un protocolo de estudios complementarios necesarios para la caracterización de los pacientes.

Palabras-clave
Síndrome de Williams; Estenosis aórtica supravalvular; Fenotipo; Retraso mental; Cromosomas humanos par 7; Hibridación fluorescente in situ.

 
© Copyright 2011 Colombia Médica
Alternative site location: http://colombiamedica.univalle.edu.co

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