M1-C1-L44 --> Factors That Complicate Inheritance Patterns

Front 1

Define Germline Mosaicism

Back 1

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)

Front 2

Define penetrance

Back 2

Expression of the phenotype in an individual with a disease-causing gentotype

Front 3

Define Reduced Penetrance

Back 3

The expression of the phenotype by less than 100% of the individuals who possess the disease genotype

Front 4

Define variable expression

Back 4

When the expression of the phenotype is varying in severity.

Front 5

Define allelic heterogeneity

Back 5

Different alleles (mutations)at a specific locus can cause variable expression

Front 6

Define Locus Heterogeneity

Back 6

A single disease phenotype caused by mutations at different loci in different families.

Front 7

Define anticipation

Back 7

Progressively earlier or more severe form of a disease in most recent generations

Front 8

What is the most common form of muscular dystrophy in adults?

Back 8

Myotonic dystrophy