important

Question 1

anticipation

Answer 1

phenomenon by which some genetic conditions become worse, or manifest earlier, with each generation

Question 2

expresstivity

Answer 2

extent to which a genotype shows its phenotypic expression in an individual

Question 3

penetrance

Answer 3

proportion of people who carry a gene who display the associated phenotype

Question 4

if both parents are carriers in an autosomal recessive condition what is the liklihood the child will be a carrier

Answer 4

50%

Question 5

commonest cause of downs

Answer 5

non dijunctionn

Question 6

non conservative

Answer 6

cant function properly

Question 7

conservative

Answer 7

can function properly

Question 8

non frameshift

Answer 8

insertion/deletion if multiples of 3

Question 9

frameshift

Answer 9

insertion/deletion if not multiple of 3

Question 10

anneuploidy

Answer 10

missing/ additon of chromosome

Question 11

polyploidy

Answer 11

gamete strats with extra set of chromsomems

Question 12

deletion

Answer 12

chunk of chromosme missing

Question 13

inversion

Answer 13

chormosome parts broken off and flipped aroundb - 1,2,3 > 2,3,1