Genetic disorders by chromosome Flashcards

1
Q

Huntington disease

A

4

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2
Q

X-linked agammaglobulinemia

A

X

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3
Q

Hemochromatosis (HFE gene)

A

6

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4
Q

Neurofibromatosis type 1

A

17

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5
Q

Marfan syndrome

A

15

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6
Q

Angelman syndrome

A

15

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7
Q

Williams syndrome

A

7

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8
Q

Friedreich ataxia

A

9

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9
Q

Cri-du-chat syndrome

A

5

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10
Q

p53

A

17

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11
Q

Achondroplasia

A

4

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12
Q

Patau syndrome

A

13

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13
Q

von Hippel-Lindau disease

A

3

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14
Q

DiGeorge syndrome

A

22 (22q11)

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15
Q

ADPKD (PKD1)

A

16

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16
Q

Prader-Willi syndrome

A

15

17
Q

Beta-globin gene defects

sickle cell disease, beta-thalassemia, MEN1

A

11

18
Q

Renal cell carcinoma

A

3

19
Q

Retinoblastoma (RB1)

A

13

20
Q

Alpha-globin gene defects (alpha-thalassemia)

A

16

21
Q

BRCA1

A

17

22
Q

Klinefelter syndrome

A

X

23
Q

Fragile X syndrome

A

X

24
Q

Edwards syndrome

A

18

25
Q

ADPKD (PKD2 gene)

A

4

26
Q

Wilson disease

A

13

27
Q

Neurofibromatosis type 2

A

22

28
Q

Familial adenomatous polyposis (FAP)

A

5

29
Q

BRCA2

A

13

30
Q

Wilms tumor

A

11

31
Q

Cystic fibrosis

A

7