Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease)

Am J Med Genet. 1995 Jun 5;57(2):168-71. doi: 10.1002/ajmg.1320570212.

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.

Publication types

  • Case Reports

MeSH terms

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