De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

Hum Genet. 1986 Oct;74(2):193-6. doi: 10.1007/BF00282093.


The single X chromosome of a girl with Turner syndrome (45,X) and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with seven cloned probes mapping in the Xp21 region where the Duchenne locus is thought to be located. A molecular deletion was detected with probes pERT 87.1, pERT 87.8, and pERT 87.15. The other probes (754, C7, 99.6, and RC8) gave a normal signal. The DNA alleles seen in the two parents indicated that the deletion found in the propositus had occurred de novo on a maternal X chromosome.

Publication types

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

MeSH terms

  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion*
  • DNA / genetics*
  • Female
  • Genetic Markers
  • Humans
  • Karyotyping
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Polymorphism, Restriction Fragment Length
  • Turner Syndrome / complications
  • Turner Syndrome / genetics*
  • X Chromosome*


  • Genetic Markers
  • DNA