Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation

J Med Genet. 1984 Feb;21(1):52-3. doi: 10.1136/jmg.21.1.52.

Abstract

We describe a family in which autosomal dominant anterior polar cataracts are segregating in four members over three generations with an apparently balanced reciprocal translocation between chromosomes 2 and 14. We conclude that altered function of a gene or genes on chromosomes 2 or 14 are important in the embryological development of the lens.

Publication types

  • Case Reports

MeSH terms

  • Cataract / genetics*
  • Child
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 13-15*
  • Female
  • Genes, Dominant
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Translocation, Genetic*