Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus

J Med Genet. 1981 Dec;18(6):442-7. doi: 10.1136/jmg.18.6.442.

Abstract

A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) translocations having a breakpoint at Xp21 points to a non-rand association of this site with the DMD phenotype. A DMD locus at Xp21 could be damaged by the translocation, giving rise to Duchenne muscular dystrophy. Alternatively, a pre-existing DMD gene could weaken the chromosome, favouring breaks at Xp21.

Publication types

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

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosomes, Human / ultrastructure
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Karyotyping
  • Muscular Dystrophies / genetics*
  • Sex Chromosomes*
  • Translocation, Genetic*
  • X Chromosome*