Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

ABSTRACT:

Introduction

Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable.

Objectives

This study aimed to test the microsatellite markers for the diagnosis of Williams-Beuren syndrome, to determine the size and parental origin of microdeletion, compare the clinical characteristics between patients with different sizes of the deletion and parental origin.

Methods

We studied 97 patients with clinical diagnosis of Wil

SUBMITTER: Dutra RL 

PROVIDER: S-EPMC3129970 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature