Open AccessWilliams-Beuren syndrome: Report of two cases with molecular diagnosis
Author(s) -
Carolina Vargas,
Wilmar Saldarriaga,
Harry Pachajoa,
Carolina Isaza
Publication year - 2011
Publication title -
colombia medica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.455
H-Index - 18
eISSN - 1657-9534
pISSN - 0120-8322
DOI - 10.25100/cm.v42i4.954
Subject(s) - supravalvular aortic stenosis , williams syndrome , phenotype , variable expression , medicine , genetics , fluorescence in situ hybridization , chromosome , biology , gene , stenosis , psychiatry , cognition
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.