mendelian inheritance

Question 1

genotype

Answer 1

particular combination of alleles for a particular gene or loci

Question 2

heterozygous

Answer 2

both alleles different

Question 3

homozygous

Answer 3

both alleles same

Question 4

phenotype

Answer 4

observable characteristics as a result of the genotype

appearance, development and behaviour

Question 5

penetrance

Answer 5

proportion of people in population with the genes and express the trait

Question 6

variable expressivity

Answer 6

range of signs and symptoms expressed in people with same genetic condition

Question 7

consanguinity

Answer 7

married 1st/2nd cousin or closer

Question 8

obligate carriers

Answer 8

might not be clinically affected, but pass it on

Question 9

genogram

Answer 9

pictoral display of a person’s family realtionships and medical history
created with simple symbols showing the gender and status
lines show familial relationshoip

Question 10

where in practice are genograms used

Answer 10

GP, oncology, paeds, clinical genetics

Question 11

diamond

Answer 11

gender unknown

Question 12

number in shape

Answer 12

multiple indivinduals

Question 13

n in shape

Answer 13

multiple individuals - number unknown

Question 14

line through

Answer 14

deceased

Question 15

line through and SB

Answer 15

still birth - gestation

Question 16

P in shape

Answer 16

pregnancy (LMP below) or gestation

Question 17

P and arrow towards shape

Answer 17

proband

Question 18

just arrow toward shape

Answer 18

consultand

Question 19

triangle

Answer 19

sponateneous abortion (shaded = affected spontaneous abortion)

Question 20

termination of pregnancy

Answer 20

triangle with line through

Question 21

horizontal line

Answer 21

mating

Question 22

horizontal line with parallel lines

Answer 22

relationship no longer exits

Question 23

question mark to child

Answer 23

biological parents unknown

Question 24

one line from parents that spilts

Answer 24

twins
(with joining line - MZ)
with qn mark - zygosity unknown

Question 25

horizontal line instead of cjhild line

Answer 25

no children

Question 26

parallel lines horizontal instead of where child should be

Answer 26

infertility

Question 27

dashed line to child and sq brackets around

Answer 27

adoption in

Question 28

solid line to child and sq brackets

Answer 28

adoption out

Question 29

proband

Answer 29

starting point for study of family

1st affected family member who seeks medical attention

Question 30

consultand

Answer 30

a person whose future offspring the genetic counsellor is to make predictions about