Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).
作者信息
Tuck-Muller C M, Dyken P R, Li S, Chen H, Labbé E, Wertelecki W
机构信息
Department of Medical Genetics, College of Medicine, University of South Alabama, Mobile 36688-0002, USA.
出版信息
Am J Med Genet. 1995 Jun 5;57(2):168-71. doi: 10.1002/ajmg.1320570212.
PMID:7668324
Abstract
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.
摘要
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