WILLIAMS-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE

被引:116
|
作者
MORRIS, CA
THOMAS, IT
GREENBERG, F
机构
[1] WAKE FOREST UNIV, BOWMAN GRAY SCH MED, DEPT PEDIAT GENET, WINSTON SALEM, NC 27103 USA
[2] BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 04期
关键词
WILLIAMS SYNDROME; AUTOSOMAL DOMINANT INHERITANCE; SUPRAVALVULAR AORTIC STENOSIS;
D O I
10.1002/ajmg.1320470409
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Williams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3-year-old boy and his 34-year-old father, a 2-year-old girl and her 30-year-old mother, and a 3-year-old girl and her 31-year-old mother. None of these patients has supravalvular aortic stenosis or chromosome abnormalities. In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码:478 / 481
页数:4
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