respiratory teach - genetics

Question 1

what is the chance of being. a CF carrier if someones sister has CF?

Answer 1

2/3 because they do not suffer but because their sister does it means the parents are both carriers (if not affected)

Question 2

trisomy 21

Answer 2

downs syndrome

Question 3

pathophysiology of downs syndrome

Answer 3

non-disjunction

Question 4

trisomy 18

Answer 4

edwards syndrome

Question 5

pathophysiology of edwards syndrome

Answer 5

non-disjunction

Question 6

trisomy 13

Answer 6

patau’s syndrome

Question 7

pathophysiology of patau’s syndrome

Answer 7

non-disjunction

Question 8

symptoms of downs syndrome

Answer 8

single palmar crease
low IQ
alzheimers
cardiac problems

Question 9

symptoms of edwards syndrome

Answer 9

small head
low ears
heart problems
low birthweight

Question 10

emanuel syndrome

Answer 10

translocation of 22/11 chromosome

inherit small chromosome

Question 11

symptoms of emanuel syndrome

Answer 11

decreased muscle tone
low IQ
small head/ jaw
ear problems
heart problems
kidney/ genital problems in males

Question 12

wolf-hirschonn syndrome

Answer 12

deletions in chromosome 4

Question 13

symptoms of wolf-hirschonn syndrome

Answer 13

broad and flat nasal bridge
high forehead
protruding eyes
small head
poorly formed ears
small philtrum

Question 14

diGeorge syndrome

Answer 14

deletion of chromosome 22

Question 15

symptoms of diGeorge syndrome

Answer 15

small head
low nasal bridge
flat midface
thin upper lip
short nose
smooth philtrum

Question 16

Cri-du-chat syndrome

Answer 16

deletions in chromosome 5

Question 17

symptoms of Cri-du-chat syndrome

Answer 17

high pitched cry
downward slanting eyes
delayed growth
low birth weight
webbing of fingers

Question 18

turner syndrome

Answer 18

missing X chromosome

Question 19

symptoms of turner syndrome

Answer 19

females only affected 
webbed neck
short stature
infertility
heart problems

Question 20

autosomal dominance

Answer 20

parents have it
50% have it
inherited by both sexes

Question 21

autosomal dominance with reduced penetrance

Answer 21

parents do not always show it
50% have it, but not always
inherited by both sexes

Question 22

autosomal recessive

Answer 22

parents unaffected
25% inherit it
may skip generations
affects both sexes

Question 23

x-linked dominant

Answer 23

father passes on the does not affect sons just daughters

if mother passes it on then affects both sexes

Question 24

x-linked recessive

Answer 24

mothers are unaffected by able to pass it on

only males affected

Question 25

mitochondrial inheritance

Answer 25

only mothers can pass it on
affects all offspring
mothers who pass it down are affected