Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).
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.
Tuck-Muller
C M
CM
Department of Medical Genetics, College of Medicine, University of South Alabama, Mobile 36688-0002, USA.
Dyken
P R
PR
Li
S
S
Chen
H
H
Labbé
E
E
Wertelecki
W
W
D002648:Child; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D014178:Translocation, Genetic; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure