First Aid - Genetic diseases Flashcards by Sarah M | Brainscape

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

PJU

A

AR

Q

Sickle cell anemia

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 muscular dystrophy

A

X-linked recessive - frameshift mutation

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 Syndrome

A

Trisomy 21

Q

Edwards syndrome

A

Trisomy 18

Q

Patau Syndrome

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

Q

Becker muscular dystrophy

A

X-linked recessive - point mutation