Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation

J Med Genet. 1991 Jul;28(7):482-4. doi: 10.1136/jmg.28.7.482.

Abstract

A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.

Publication types

  • Case Reports

MeSH terms

  • Albinism, Oculocutaneous / classification
  • Albinism, Oculocutaneous / genetics*
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / ultrastructure*
  • Chromosomes, Human, Pair 4 / ultrastructure*
  • Humans
  • Male
  • Monophenol Monooxygenase / analysis
  • Translocation, Genetic*

Substances

  • Monophenol Monooxygenase