Congenital nystagmus cosegregating with a balanced 7;15 translocation

J Med Genet. 1993 Jun;30(6):526-8. doi: 10.1136/jmg.30.6.526.

Abstract

We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 7*
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Nystagmus, Pathologic / congenital*
  • Nystagmus, Pathologic / genetics*
  • Pedigree
  • Translocation, Genetic*