TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24

被引：14

作者：

MARCHAU, FE

VANROY, BC

PARIZEL, PM

LAMBERT, JR

DECANCK, I

LEROY, JG

GEVAERT, CM

WILLEMS, PJ

DUMON, JE

机构：

[1] UNIV INSTELLING ANTWERP, UIA, DEPT MED GENET, UNIV PLEIN 1, B-2610 WILRIJK, BELGIUM

[2] UNIV INSTELLING ANTWERP, UIA, DEPT RADIOL, B-2610 WILRIJK, BELGIUM

[3] UNIV INSTELLING ANTWERP, UIA, DEPT DERMATOL, B-2610 WILRIJK, BELGIUM

[4] STATE UNIV GHENT, DEPT MED GENET, B-9000 GHENT, BELGIUM

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 04期

关键词：

TRICHORHINOPHALANGEAL SYNDROME; TRP; LANGER-GIEDION; TRANSLOCATION; 8Q24; TRISOMY-8;

D O I：

10.1002/ajmg.1320450411

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).

引用

页码：450 / 455

页数：6

共 43 条

[1] TRICHO-RHINO-PHALANGEAL DYSPLASIA - REPORT OF A KINDRED [J].