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.
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收藏
页码：82 / 83
页数：2
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