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Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease)
C M Tuck-Muller1, P R Dyken, S Li
1Department of Medical Genetics, College of Medicine, University of South Alabama, Mobile 36688-0002, USA.
American Journal of Medical Genetics
|June 5, 1995
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.
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