[Importance of germ cell mosaic for genetic counseling of families with Duchenne and Becker muscular dystrophy].

Abstract excerpt

Germ cell mosaics were demonstrated in Duchenne's and Becker's muscular dystrophy by molecular genetic methods. These findings affect risk estimates in these x-chromosomal muscular diseases. The mutation-selection equilibrium for x-chromosomally lethal inheritance for determining the a priori probability for risk estimate according to the Bayes theorem must therefore be redefined to take the germ cell mosaic...

Topics

• Bayes Theorem
• Female
• Genetic Carrier Screening
• Genetic Counseling
• Germ Cells
• Humans
• Male
• Models, Genetic
• Mosaicism
• Muscular Dystrophies
• Mutation
• Pedigree