Questions asked

Question 1

complete dominance

Answer 1

where a dominant allele completely masks the effect of a recessive allele

Question 2

chorionic villus sampling

Answer 2

form of prenatal diagnosis

cells are removed from the placenta

Question 3

in a non-DS individual how many chromosomes result from a Robertsonian translocation t(14q:21q)

Answer 3

45

eg. chr14 and 21 fuse so there is one less than the normal diploid

Question 4

in a DS pt, how many chromosomes result from a Robertsonian translocation t(21q:21q)

Answer 4

46

as there is an extra chr21
so two fuse=45
but the extra chr21 means +1 = 46

Question 5

dignostic testing definition

Answer 5

confirmation of a clinical impression

Question 6

karyotype definition

Answer 6

a photograph of chromosomes
arranged in a standard way

Question 7

what is haploinsufficiency

Answer 7

one copy of a gene is inactivated/deleted
and the remaining functional copy does not produce enough for the wild type condition