Article
Recurrence risk of a new dominant mutation in children of unaffected parents.
American journal of human genetics - 1 Apr 1991
Wijsman E M
Abstract excerpt
Extensions to models originally described by Hartl for predicting the recurrence risk of new dominant mutations are developed in this paper. Additions to the models are (1) possible somatic mosaicism in a parent in some families, (2) the possibility that the parental origin of the mutation may or may not be known, and (3) mutation rates which change as a function of sex and/or time. The models indicate that...
Topics
- Chromosomes, Human, Pair 21
- Congenital Abnormalities
- Female
- Germ Cells
- Humans
- Infant
- Male
- Models, Genetic
- Mosaicism
- Mutation
- Recurrence
- Risk Factors