Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key


Play button


Play button




Click to flip

8 Cards in this Set

  • Front
  • 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