Dz and chromosomes Flashcards

(28 cards)

1
Q

Chromosome 3

A

von hippel landau

renal cell carcinoma

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2
Q

von hippel landau

renal cell carcinoma

A

chromosome 3

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3
Q

chromosome 4

A

ADPKA with PKD2 defect

Huntington disease

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4
Q

ADPKD

Huntington disease

A

chromosome 4

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5
Q

Chromosome 5

A

cri-du-chat

familial adenomatous polyposis

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6
Q

cri-du-chat

familial adenomatous polyposis

A

chromosome 5

deletion of 5p at cri du chat - still 46 chromosomes

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7
Q

chromosome 7

A

Williams syndrome?? what is this??

cystic fibrosis

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8
Q

Williams syndrome

cystic fibrosis

A

chromosome 7

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9
Q

chromosome 9

A

Friedrich ataxia

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10
Q

friedrich ataxia

A

chromosome 9

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11
Q

chromosome 11

A

wilms tumour

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12
Q

wilms tumour

A

chromosome 11

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13
Q

chromosome 13

A

patau syndrome

Wilson disease

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14
Q

patau syndrome

Wilson disease

A

chromosome 13

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15
Q

chromosome 15

A

prader willi syndrome
angelmann syndrome
marfan disease - fibrillin

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16
Q

prader willi syndrome
angelmann syndrome
marfan syndrome - fibrillin

A

chromosome 15

17
Q

chromosome 16

A

ADPKD with PKD1 defect

18
Q

ADPKD with PKD1 defect

A

chromosome 16

19
Q

chromosome 17

20
Q

NF-1

A

chromosome 17

21
Q

chromosome 18

A

Edward syndrome

22
Q

Edward Syndrome

A

chromosome 18

23
Q

chromosome 21

A

Down syndrome

24
Q

Down syndrome

A

chromosome 21

25
chromosome 22
NF-2 | Digeorge syndrome 22q11
26
NF-2 | Digeorge syndrome
chromosome 22
27
X chromosome
Fragile X syndrome X-linked agammaglobulinemia Klinefelter syndrome XXy
28
Fragile X syndrome X-linked agammaglobulinemia Klinefelter syndrome XXy
X chromosome