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.
MeSH terms
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Child
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Chromosome Banding
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Chromosome Mapping
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Chromosomes, Human, Pair 10*
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Chromosomes, Human, Pair 18*
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Female
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Humans
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Karyotyping
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Lymphocytes / pathology
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Lymphocytes / ultrastructure
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Male
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Microscopy, Electron
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Neuronal Ceroid-Lipofuscinoses / classification
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Neuronal Ceroid-Lipofuscinoses / pathology*
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Translocation, Genetic*
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Vacuoles / pathology
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Vacuoles / ultrastructure