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.

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.