European Journal of Pediatrics

, Volume 150, Issue 4, pp 256–258 | Cite as

Prenatal deletion detection in a sporadic case of Duchenne muscular dystrophy without genotype information from the affected individual

  • F. Peinemann
  • M. Wagner
  • U. Franke
  • M. Kulle
  • J. Reiss
Medical Genetics


We describe the application of deletion screening by amplification of deletion-prone exons via polymerase chain reaction (PCR) in a family with a sporadic case of Duchenne muscular dystrophy (DMD). No DNA was available from the affected patient who died 12 years beforehand at the age of 18 years. Material obtained prenatally from two male fetuses exhibited an identical deletion. These findings effectivly transformed a sporadic case into a familial case and a numerical carrier risk was substituted by obligate carrier status. Additionally an indirect genotype analysis was replaced by the possibility of direct DNA analysis. Genetic counselling, formerly based upon incomplete data, can now be aided by precise risk assessment.

Key words

Duchenne muscular dystrophy Deletion screening Prenatal diagnosis Polymerase chain reaction 



creatine kinase


Duchenne muscular dystrophy


polymerase chain reaction


restriction fragment length polymorphism


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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • F. Peinemann
    • 1
  • M. Wagner
    • 1
  • U. Franke
    • 1
  • M. Kulle
    • 1
  • J. Reiss
    • 1
  1. 1.Institut für Humangenetik der Universität GöttingenGöttingenFederal Republic of Germany

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