Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy

J Med Genet. 1986 Dec;23(6):491-3. doi: 10.1136/jmg.23.6.491.

Abstract

A number of DNA probes from the short arm of the X chromosome have been used to study the inheritance of the translocation chromosomes in a girl with an X; autosome translocation and muscular dystrophy. The two translocation chromosomes were found to be derived from the father's single normal X chromosome, ruling out maternal inheritance of a pre-existent mutation and enhancing the concept that the de novo translocation is responsible for the dystrophic phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 21*
  • Female
  • Genetic Linkage
  • Humans
  • Muscular Dystrophies / genetics*
  • Polymorphism, Restriction Fragment Length
  • Translocation, Genetic*
  • X Chromosome*