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8 Cards in this Set

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  • Back
Define Germline Mosaicism
All or part of the germ line in an individual contains an allele not present in the somatic cells (e.g. - dad has OI mutation in 1 out of 6 sperms)
Define penetrance
Expression of the phenotype in an individual with a disease-causing gentotype
Define Reduced Penetrance
The expression of the phenotype by less than 100% of the individuals who possess the disease genotype
Define variable expression
When the expression of the phenotype is varying in severity.
Define allelic heterogeneity
Different alleles (mutations)at a specific locus can cause variable expression
Define Locus Heterogeneity
A single disease phenotype caused by mutations at different loci in different families.
Define anticipation
Progressively earlier or more severe form of a disease in most recent generations
What is the most common form of muscular dystrophy in adults?
Myotonic dystrophy