Genetic counselling in Huntington's Flashcards
1
Q
What is X linked recessive inheritance
A
Males with one copy of the abnormal gene on the X chromosome are affected
2
Q
Important factor of X linked dominant inheritance
A
Always get transmission from a man to his daughters but never to his son
3
Q
What is Penetrance
A
Complete or incomplete
The proportion of individuals with the gene who are affected often dependent on age of assessment
4
Q
What is variable expressivity
A
The degree to which a disorder is expressed in an individual
5
Q
What is reduced penetrance
A
Not everyone who inherits the mutation develops condition in their lifetime
