September 1, 1989Journal of Medical GeneticsOpen Access

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

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Population

288 Dutch and Belgian Duchenne and Becker muscular dystrophy families with 41 new deletion or duplication…

Design

Cohort

Authors

Discussion

Supports mosaicism-informed counseling for apparent de novo DMD families; leaves open validation in larger cohorts.

Population

288 Dutch and Belgian Duchenne and Becker muscular dystrophy families with 41 new deletion or duplication mutations

Outcome

Parental origin of new mutations and recurrence risk

Germinal mosaicism poses a significant 14% recurrence risk for 'new' Duchenne muscular dystrophy mutations, which is crucial for genetic counseling.

Bakker et al. (1989) studied this question.

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