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Flashcards in Genetics Deck (107)
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1

chorionic villus testing at

12 weeks

2

amniocentesis at

16 weeks

3

x linked recessive disorders usually involve

enzyme deficiency

4

what are the x linked recessive disorders

hemophilia A/B, G6PD, CGD, DuXchenne muscular dystrophy, NeXrophenic DI, Retinitis pigmenXosa, Androgen insensitivity, Wiskott Aldrich

5

what are the chances of having a child with disease if mom is carrier of x-linked recessive disease

50% males affected, 50% females carriers (25% of all children carriers, 25% of all children affected)

6

no male to male transmission if

x linked

7

variable penetrance and variable expressivity in what mode of transmission

autosomal dominant

8

autosomal dominant disease mnemonic

TAR MAN

9

autosomal dominant diseases

Tuberous sclerosis
Achondroplasia
Retinoblastoma
Marfan
Apert and All porphyria
Nail patella syndrome and Neurofibromatosis

10

what rules out autosomal recessive transmission

vertical transmission through 3 generations

11

what percent of unaffected offspring are carriers with autosomal recessive

2/3

12

autosomal recessive disease

GAS HAT WAK P
Galactosemia
Alpha1 antitrypsin
Sickle cell and Thalassemia
Hurler
Ataxia telangiectasia
Tay Sachs
Wilson
Adrenogential syndrome
Kartagener
PKU

13

heart defects with Turners

bicuspid aortic vale and coarctation of the aorta

14

infant presentation w/ Turners

short 4th and 5th metacarpals, widely spaced nipples, lymphedema of hands and feet

15

adolescent features of Turners

short stature, minimal breast development, primary amenorrhea

16

added features of Turners

wide carrying angle of elbows, chronic otitis media, hyper convex nails, small mandible, high arched palate

17

most common chromosomal defect in spontaneous abortions

45XO (turners)

18

lab finding in Turner

elevated FSH

19

Noonan syndrome features

precuts excavatum, webbed neck, pulmonic stenosis

20

Noonan syndrome heart defect

pulmonic stenosis

21

mutation in Marfans

chromosome 15 in the fibrillar gene

22

major criteria to diagnose marfans

1. dilatation/dissection of aortic root
2. lumbosacral dural ectasia
3. ectopia lensis
4. four skeletal abnormalities
5. family/genetic history

23

homocystinuria lens

displaced downwards

24

genetic disorders that increase w/ increasing maternal age

trisomies

25

2 ways trisomy 21 can arise

translocation or nondisjunction

26

is there increased risk of additional offspring w/ trisomy?

100% if parent w/ full translocation, 15% if partial translocation, normal risk if nondisjunction

27

most common abnormality in down syndrome

hypotonia

28

eye finding in down syndrome

brush field spots

29

heart findings in down syndrome

AV canal/endocardial cushion defects (causes EKG axis to be off)

30

Edward syndrome aka

trisomy 18