Human Genetics

, Volume 74, Issue 2, pp 193–196 | Cite as

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
Received:

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.

Keywords

Internal Medicine Metabolic Disease Southern Blotting Muscular Dystrophy Normal Signal 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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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

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