TRANSLOCATION-10-18 IN A PATIENT WITH JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-DISEASE)

被引：1

作者：

TUCKMULLER, CM

DYKEN, PR

LI, SB

CHEN, H

LABBE, E

WERTELECKI, W

机构：

[1] UNIV SO ALABAMA,COLL MED,DEPT NEUROL,MOBILE,AL 36688

[2] UNIV SO ALABAMA,COLL MED,DEPT PSYCHOL,MOBILE,AL 36688

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 02期

关键词：

BATTEN DISEASE; JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS; CHROMOSOME ABNORMALITY; CHROMOSOME TRANSLOCATION; T(10-18)(Q22.1-Q21.1); GENE MAPPING;

D O I：

10.1002/ajmg.1320570212

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the first observation of a chromosome abnormality in a patient with typical juvenile ceroid-lipofuscinosis (NCL), who was found to have an apparently balanced translocation between chromosomes 10 and 18 [t(10;18)(q22.1;q21.1)]. Since juvenile NCL was previously mapped to 16p12, this report raises the possibility of heterogeneity in this form of NCL. (C) 1995 Wiley-Liss,Inc.

引用

页码：168 / 171

页数：4