locaties aandoeningen Flashcards

1
Q

SRY (TDF)

testis determinerende factor

A

Yp11.3

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2
Q

fragiele X syndroom

A

X

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3
Q

daltonisme

A

X

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4
Q

hemofilie

A

X

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5
Q

duchenne

A

X

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6
Q

wolf hirschhorn syndroom

A

4p16.3

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7
Q

cri du chat

A

5p15.2

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8
Q

velocardiofaciaal syndroom

A

22q11.2

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9
Q

kallmann syndroom

A

X

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10
Q

down syndroom

A

47, XY, +21

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11
Q

edwards syndroom

A

47, XY, +18

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12
Q

patau syndroom

A

47,XY, +13

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13
Q

alzheimer

A

21q21

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14
Q

albinisme

A

X

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15
Q

huntington

A

4p16.3

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16
Q

sikkelcelanemie

A

11p15.5