Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients

被引：13

作者：

McGaughran, JM

Gaunt, L

Dore, J

Petrij, F

Dauwerse, HG

Donnai, D

机构：

[1] ST MARYS HOSP, DEPT CYTOGENET, MANCHESTER M13 0JH, LANCS, ENGLAND

[2] LEIDEN UNIV, DEPT HUMAN GENET, SYLVIUS LABS, 2300 RA LEIDEN, NETHERLANDS

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 01期

关键词：

Rubinstein-Taybi syndrome; probe RT1;

D O I：

10.1136/jmg.33.1.82

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.

引用

页码：82 / 83

页数：2

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