Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

J Med Genet. 2004 Mar;41(3):e25. doi: 10.1136/jmg.2003.011510.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / physiopathology
  • Child
  • Child, Preschool
  • Chromosome Breakage / genetics
  • Chromosomes, Human, Pair 20 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Disease Progression
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Middle Aged
  • Pedigree
  • Physical Chromosome Mapping
  • Translocation, Genetic / genetics*