Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation

Ann Genet. 1984;27(3):173-7.


A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosomes, Human, 21-22 and Y
  • Female
  • Humans
  • Karyotyping
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Sex Chromosome Aberrations / genetics
  • Translocation, Genetic*
  • Turner Syndrome / complications
  • Turner Syndrome / genetics*