与Williams-Beuren基因座重复相关的严重表达性语言延迟

作     者：Somerville M.J. Mervis C.B. Young E.J. L.R. Osborne 郭俊 

作者机构：Department of Medicine University of Toronto 7238 Medical Sciences Bldg. 1 King's College Circle Toronto Ont. M5S 1A8 Canada.Dr 

出 版 物：《世界核心医学期刊文摘(神经病学分册)》 (Digest of the World Core Medical Journals.Clinical Neurology)

年 卷 期：2006年第2期

页      面：6-6页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：基因座 Williams-Beuren BS 

摘      要：The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.