First Aid - Genetic diseases Flashcards by d k

Q

ADPKD

A

AD ch 16, 4

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Q

FAP

A

AD ch 5

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Q

familial hypercholesterolemia

A

AD

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Q

hereditary hemorrhagic telangiectasia

A

AD

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Q

hereditary spherocytosis

A

AD

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Q

huntington disease

A

AD chr 4

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Q

marfan syndrome

A

AD

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Q

MEN

A

AD

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Q

NF1/2

A

AD ch 17, 22

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Q

Tuberous sclerosis

A

AD ch 9

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Q

VHL disease

A

AD ch 3

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Q

albinism

A

AR

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Q

ARPKD

A

AR

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Q

CF

A

AR ch 7

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Q

glycogen storage diseases

A

AR

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Q

hemochromatosis

A

AR

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Q

kartageners

A

AR

Q

mucopolysaccharidoses except hunter

A

AR

Q

pku

A

AR

Q

sca

A

AR

Q

sphinolipidoses except fabry

A

AR

Q

thalassemias

A

AR

Q

wilson’s

A

AR

Q

bruton agammaglobulinemia

A

X-linked recessive

Q

wiskott-aldrich

A

X-linked recessive

Q

fabry

A

X-linked recessive

Q

g6pd deficiency

A

X-linked recessive

Q

ocular albinism

A

X-linked recessive

Q

lesch-nyhan

A

X-linked recessive

Q

duchenne and becker muscular dystrophy

A

X-linked recessive

Q

hunter syndrome

A

X-linked recessive

Q

hemophilia A and B

A

X-linked recessive

Q

OTC deficiency

A

X-linked recessive

Q

down

A

trisomy 21

Q

edwards

A

trisomy 18

Q

patau

A

trisomy 13

Q

cri-du-chat

A

microdeletion short arm ch.5

Q

williams

A

microdeletion long arm ch.7

Q

digeorge

A

microdeletion 22q11

Q

velocardiofacial syndrome

A

microdeletion 22q12

Q

hypophosphatemic rickets

A

X linked dominant