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Medicinsk genetik > Sygdomme og begreber > Flashcards

Sygdomme og begreber Flashcards

1
Q

Hvordan nedarves rød-grøn-farveblindhed?

A

XR

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2
Q

Hvordan nedarves cystisk fibrose?

A

AR

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3
Q

Hvordan nedarves Duchennes muskeldystrofi?

A

XR

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4
Q

Hvordan nedarves achondroplasi og hypochondroplasi?

A

AD (FGFR3-genet)

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5
Q

Hvordan nedarves døvhed?

A

Der er flere gener (locus-heterogenitet)

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6
Q

Hvordan nedarves ektodermal dysplasi?

A

XR (ED1-genet) eller evt. AR (EDAR-genet)

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7
Q

Hvordan nedarves hæmofili?

A

XR

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8
Q

Hvordan nedarves Lebers hereditære opticusneuropati?

A

Mitochondrielt

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9
Q

Hvordan nedarves oculocutan albinisme?

A

AR

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10
Q

Hvordan nedarves NF1?

A

AD

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11
Q

Hvordan nedarves PKU?

A

AR

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12
Q

Hvordan nedarves polycystisk nyresygdom?

A

AD med nedsat penetrans

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13
Q

Hvordan nedarves Rett-syndrom?

A

XD

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14
Q

Hvordan nedarves fragilt X-syndrom?

A

XD med nedsat penetrans

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15
Q

Hvordan nedarves HD?

A

AD

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16
Q

Hvordan nedarves LQT-syndrom?

A

AD, flere gener

17
Q

Karyotype for Down’s?

A

Trisomi 21

18
Q

Karyotype for Edwards?

A

Trisomi 18

19
Q

Karyotype for Patau?

A

Trisomi 13

20
Q

Karyotype for Klinefelter?

A

XXY

21
Q

Karyotype for Turner?

A

X0

22
Q

Hvordan nedarves beta-thalassæmi?

A

AR (betaglobin-genet)

23
Q

Hvordan nedarves brystkræft?

A

AD, BRCA1+2

24
Q

Hvrdan nedarves tarmkræft?

A

AD, fx APC

25
Q

Hvordan nedarves diabetes?

A

Multifaktorielt

26
Q

Hvordan nedarves autisme?

A

Multifaktorielt

27
Q

Hvordan nedarves skizofreni?

A

Multifaktorielt

28
Q

Mutation i DiGeorge?

A

Deletion

29
Q

Angelman-syndroms arvegang/mutation?

A

Deletion på maternal allel fører til uniparental disomi pga. imprinting

30
Q

Prader-Willi-syndroms arvegang/mutation?

A

Deletion på paternal allel fører til uniparental disomi pga. imprinting

Medicinsk genetik (1 decks)

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