Publication: Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings
Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings
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Ott, J., Caesar, J., Mächler, M., Schinzel, A., & Schmid, W. (1990). Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings. Human Heredity, 40, 305–307. https://doi.org/10.1159/000153950
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An unusual one-generation family with myotonic dystrophy is presented, in which genetic counseling was successfully carried out. The probability of an informative result, before marker typing, is analytically derived and amounts to at least 40%.
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Ott, J., Caesar, J., Mächler, M., Schinzel, A., & Schmid, W. (1990). Presymptomatic Exclusion of Myotonic Dystrophy in a One-Generation Pedigree of Half-Siblings. Human Heredity, 40, 305–307. https://doi.org/10.1159/000153950