KLIPPEL-TRENAUNAY-WEBER-SYNDROME ASSOCIATED WITH A 5/11 BALANCED TRANSLOCATION

被引：85

作者：

WHELAN, AJ

WATSON, MS

PORTER, FD

STEINER, RD

机构：

[1] ST LOUIS CHILDRENS HOSP,DIV MED GENET,ST LOUIS,MO 63110

[2] WASHINGTON UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,ST LOUIS,MO 63110

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 04期

关键词：

HEMI-HYPERTROPHY; DEVELOPMENTAL DELAY; CHROMOSOME; 5; 11; CYTOGENETICS;

D O I：

10.1002/ajmg.1320590416

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 had 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. (C) 1995 Wiley-Liss, Inc.

引用

页码：492 / 494

页数：3

共 12 条

[1] DOMINANT INHERITANCE OF WIEDEMANN-BECKWITH SYNDROME - FURTHER EVIDENCE FOR TRANSMISSION OF UNSTABLE PREMUTATION THROUGH CARRIER WOMEN [J].