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Myotonic dystrophy and autosomal balanced translocation t(2; 20) (p21; q11)
Authors:J. P. Fryns    A. Kleczkowska    I. Bulcke   H. van den   Berghe
Affiliation:Division of Human Genetics, Departments of Human Biology, Leuven, Belgium;Departments of Neurology, Leuven, Belgium
Abstract:The present paper reports the concurrence of Myotonic Dystrophy and an autosomal balanced translocation t(2;20)(p21;qll), both occurring de novo in a 21–year-old female.
Keywords:Autosomal translocation    de novo mutation    myotonic dystrophy
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