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.
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收藏
页码：168 / 171
页数：4
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