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neuro > genetic disorders by chromosome > Flashcards

genetic disorders by chromosome Flashcards

1
Q

chromosome 1

A

von-hippel-lindau disease, renal cell carcinoma

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2
Q

chromosome 4

A

ADPKD (PKD2), achondroplasia, huntington disease

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3
Q

chromosome 5

A

cri-du-chat syndrome, familial adenomatous polyposis

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4
Q

chromosome 6

A

hemochromatosis (HFE)

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5
Q

chromosome 7

A

Williams syndrome, cystic fibrosis

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6
Q

chromosome 9

A

friedrich ataxia

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7
Q

chromosome 11

A

Wilms tumor, b-globin gene defects (sickle cell disease, b-thalassemia)

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8
Q

chromosome 13

A

patau syndrome, wilson disease, retinoblastoma (RB1), BRCA2

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9
Q

chromosome 15

A

prader-willi syndrome, angelman syndrome, marfan syndrome

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10
Q

chromosome 16

A

ADPKD (PKD1), a-globin gene defects (a-thalassemia)

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11
Q

chromosome 17

A

neurofibromatosis type 1, BRCA1

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12
Q

chromosome 18

A

Edwards syndrome

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13
Q

chromosome 21

A

down syndrome

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14
Q

chromosome 22

A

neurofibromatosis type 2, digeorge syndrome (22q11)

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15
Q

X

A

Fragile X syndrome, x-linked agammaglobulinnemia, klinefelter syndrome (XXY)

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16
Q

wilms tumor

A

11

17
Q

ADPKD (PKD1)

A

16

18
Q

DiGeorge syndrome

A

22 (22q11)

19
Q

Prader-Willi syndrome

A

15

20
Q

Williams syndrome

A

7

21
Q

Hemochromatosis (HFE)

A

6

22
Q

Friedreich ataxia

A

9

23
Q

Edwards syndrome

A

18

24
Q

Down syndrome

A

21

25
Q

cystic fibrosis

A

7

26
Q

cri du chat syndrome

A

5

27
Q

familial adenomatous polyposis

A

5

28
Q

achondroplasia

A

4

29
Q

renal cell carcinoma

A

3

30
Q

a-globin defects (a-thalassemias)

A

16

31
Q

retinoblastoma (RB1)

A

13

32
Q

b-globin defects (sickle cell disease, b-thalassemia)

A

11

33
Q

ADPKD (PKD2)

A

4

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