与5:11平衡易位相关的克-特-韦综合征
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.
作者信息
Whelan A J, Watson M S, Porter F D, Steiner R D
机构信息
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
出版信息
Am J Med Genet. 1995 Dec 4;59(4):492-4. doi: 10.1002/ajmg.1320590416.
We report on a case of Klippel-Trenaunay Weber syndrome (KTWS) associated with a reciprocal translocation [46,XX,t (5;11) (q13.3;p15.1)]. The patient has developmental delay and minor anomalies in addition to classic findings of KTWS. These data support the notion that Klippel-Trenaunay-Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel-Trenaunay-Weber gene(s) to 5q or 11p.
我们报告了一例与相互易位[46,XX,t(5;11)(q13.3;p15.1)]相关的克-特-韦综合征（KTWS）病例。该患者除了具有KTWS的典型表现外，还存在发育迟缓及轻微异常。这些数据支持克-特-韦综合征可能由单个基因缺陷引起的观点，并提示克-特-韦基因可能定位于5q或11p。
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