SUBMICROSCOPIC DELETION OF CHROMOSOME REGION 16P13.3 IN A JAPANESE PATIENT WITH RUBINSTEIN-TAYBI SYNDROME

被引：21

作者：

MASUNO, M ^{[1
]}

IMAIZUMI, K ^{[1
]}

KUROSAWA, K ^{[1
]}

MAKITA, Y ^{[1
]}

PETRIJ, F ^{[1
]}

DAUWERSE, HG ^{[1
]}

BREUNING, MH ^{[1
]}

KUROKI, Y ^{[1
]}

机构：

[1] LEIDEN UNIV, SYLVIUS LABS, DEPT HUMAN GENET, LEIDEN, NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 04期

关键词：

RUBINSTEIN-TAYBI SYNDROME; SUBMICROSCOPIC DELETION; 16P13.3; RT1; D16S237; AGENESIS OF THE CORPUS CALLOSUM;

D O I：

10.1002/ajmg.1320530409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding. (C) 1994 Wiley-Liss, Inc.

引用

页码：352 / 354

页数：3

共 11 条

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