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Flashcards in respiratory teach - genetics Deck (25)
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1
Q

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

A

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

2
Q

trisomy 21

A

downs syndrome

3
Q

pathophysiology of downs syndrome

A

non-disjunction

4
Q

trisomy 18

A

edwards syndrome

5
Q

pathophysiology of edwards syndrome

A

non-disjunction

6
Q

trisomy 13

A

patau’s syndrome

7
Q

pathophysiology of patau’s syndrome

A

non-disjunction

8
Q

symptoms of downs syndrome

A

single palmar crease
low IQ
alzheimers
cardiac problems

9
Q

symptoms of edwards syndrome

A

small head
low ears
heart problems
low birthweight

10
Q

emanuel syndrome

A

translocation of 22/11 chromosome

inherit small chromosome

11
Q

symptoms of emanuel syndrome

A
decreased muscle tone
low IQ
small head/ jaw
ear problems
heart problems
kidney/ genital problems in males
12
Q

wolf-hirschonn syndrome

A

deletions in chromosome 4

13
Q

symptoms of wolf-hirschonn syndrome

A
broad and flat nasal bridge
high forehead
protruding eyes
small head
poorly formed ears
small philtrum
14
Q

diGeorge syndrome

A

deletion of chromosome 22

15
Q

symptoms of diGeorge syndrome

A
small head
low nasal bridge
flat midface
thin upper lip
short nose
smooth philtrum
16
Q

Cri-du-chat syndrome

A

deletions in chromosome 5

17
Q

symptoms of Cri-du-chat syndrome

A
high pitched cry
downward slanting eyes
delayed growth
low birth weight
webbing of fingers
18
Q

turner syndrome

A

missing X chromosome

19
Q

symptoms of turner syndrome

A
females only affected 
webbed neck
short stature
infertility
heart problems
20
Q

autosomal dominance

A

parents have it
50% have it
inherited by both sexes

21
Q

autosomal dominance with reduced penetrance

A

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

22
Q

autosomal recessive

A

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

23
Q

x-linked dominant

A

father passes on the does not affect sons just daughters

if mother passes it on then affects both sexes

24
Q

x-linked recessive

A

mothers are unaffected by able to pass it on

only males affected

25
Q

mitochondrial inheritance

A

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