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Flashcards in Inheritance quiz Deck (35)
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1
Q

achondroplasia (FGF-R 3)

A

AD

2
Q

adult PKD (APKD1, chromosome 16)

A

AD

3
Q

albinism

A

AR

4
Q

Bruton’s agammaglobinemia

A

XLR

5
Q

cystic fibrosis

A

AR

6
Q

Duchenne (and Becker’s)

A

XLR

7
Q

Fabry’s

A

XLR

8
Q

familial adenomatous polyposis (APC gene, chromosome 5)

A

AD

9
Q

familial hypercholesterolemia (LDL-R)

A

AD

10
Q

fragile x

A

CGG repeats

11
Q

Friedrich’s ataxia

A

AR (GAA repeats, chromosome 9)

12
Q

G6PD deficiency

A

XLR

13
Q

glycogen storage diseases

A

AR

14
Q

hemochromatosis

A

AR

15
Q

Hemophilia A and B

A

XLR

16
Q

hereditary hemorrhagic telangiectasias = Osler-Weber-Rendu syndrome

A

AD

17
Q

hereditary spherocytosis (spectrin or ankyrin)

A

AD

18
Q

Hunter’s syndrome

A

XLR

19
Q

Huntington (chromosome 4)

A

AD

20
Q

infantile PKD

A

AR

21
Q

Lesch-Nyhan syndrome

A

XLR

22
Q

Marfan’s

A

AD

23
Q

MEN

A

AD

24
Q

mucopolysaccharidoses (except Hunter’s)

A

AR

25
Q

myotonic dystophy

A

CTG repeats

26
Q

NF-1 = von Ricklinghausen’s disease (q17)

A

AD

27
Q

NF-2 (chromosome 22)

A

AD

28
Q

ocular albinism

A

XLR

29
Q

PKU

A

AR

30
Q

sickle cell

A

AR

31
Q

sphingolipidoses (except Fabry’s)

A

AR

32
Q

thalassemias

A

AR

33
Q

Tuberous sclerosis

A

AD

34
Q

von Hippel-Lindau (VHL tumor suppressor gene, chromosome 3)

A

AD

35
Q

Wiscott-Aldrich syndrome

A

XLR