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inheritance Flashcards

1
Q

Familial hypercholesterolemia

A

AD

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2
Q

osteogenesis imperfecta

A

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3
Q

Menkes disease

A

X-linked recessive

impaired copper absorption and transport (defective ATP7A0 –> kinky hair, growth retardation, hypotonia

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4
Q

G6PD def

A

X-linked recessive

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5
Q

Glycogen storage diseases

A

AR

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6
Q

MEN

A

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7
Q

Hemochromatosis

A

AR

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8
Q

Albinism

A

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9
Q

Familial adenomatous polyposis

A

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10
Q

Achondroplasia

A

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11
Q

Hereditary spherocytosis

A

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12
Q

Wilson disease

A

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13
Q

PKU

A

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14
Q

NF1 and 2

A

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15
Q

VHL

A

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16
Q

Kartagener syndrome

A

AR

17
Q

Hemophilia A and B

A

X-linked recessive

18
Q

Lesch-Nyhan syndrome

A

X-linked recessive

19
Q

Fragile X syndrome

A

X-linked dominant

20
Q

Duchenne and Becker muscular dystrophy

A

X-linked recessive

21
Q

Conditions with polygenic inheritance

A 
Androgenetic alopecia
Epilepsy
Glaucoma
HTN
Ischemic heart disease
Schizophrenia
T2DM
22
Q

Leber hereditary optic neuropathy

A

Mitochondrial inheritance

23
Q

MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes)

A

Mitochondrial

24
Q

Myoclonic epilepsy with ragged red mm fibers

A

mitochondrial

25
Q

Fabry’s disease

A

X-linked recessive (other lysosomal storage d/o that is XR is Hunter’s)

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