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

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

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 hybrid...

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Bibliographic Details
Main Authors: Roberta Lelis Dutra, Patrícia de Campos Pieri, Ana Carolina Dias Teixeira, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim
Format: Article
Language:English
Published: Elsevier España 2011-01-01
Series:Clinics
Subjects:
Williams-Beuren syndrome
microsatellite markers
parental origin
size deletion
molecular diagnosis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011000600007

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