Human Genetics

, Volume 74, Issue 2, pp 193–196

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

  • J. Chelly
  • F. Marlhens
  • B. Le Marec
  • M. Jeanpierre
  • M. Lambert
  • G. Hamard
  • B. Dutrillaux
  • J. -C. Kaplan
Clinical Case Reports

DOI: 10.1007/BF00282093

Cite this article as:
Chelly, J., Marlhens, F., Le Marec, B. et al. Hum Genet (1986) 74: 193. doi:10.1007/BF00282093

Summary

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.

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • J. Chelly
    • 1
  • F. Marlhens
    • 2
  • B. Le Marec
    • 3
  • M. Jeanpierre
    • 1
  • M. Lambert
    • 1
  • G. Hamard
    • 1
  • B. Dutrillaux
    • 2
  • J. -C. Kaplan
    • 1
  1. 1.INSERM U 129, Institut de Pathologie MoléculaireCHU Cochin Port-RoyalParisFrance
  2. 2.UA 620 CNRSInstitut CurieParix Cédex 05France
  3. 3.Centre Hospitalo-UniversitaireHôpital de PontchaillouRennesFrance