genetic disorders by chromosome

Question 1

chromosome 1

Answer 1

von-hippel-lindau disease, renal cell carcinoma

Question 2

chromosome 4

Answer 2

ADPKD (PKD2), achondroplasia, huntington disease

Question 3

chromosome 5

Answer 3

cri-du-chat syndrome, familial adenomatous polyposis

Question 4

chromosome 6

Answer 4

hemochromatosis (HFE)

Question 5

chromosome 7

Answer 5

Williams syndrome, cystic fibrosis

Question 6

chromosome 9

Answer 6

friedrich ataxia

Question 7

chromosome 11

Answer 7

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

Question 8

chromosome 13

Answer 8

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

Question 9

chromosome 15

Answer 9

prader-willi syndrome, angelman syndrome, marfan syndrome

Question 10

chromosome 16

Answer 10

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

Question 11

chromosome 17

Answer 11

neurofibromatosis type 1, BRCA1

Question 12

chromosome 18

Answer 12

Edwards syndrome

Question 13

chromosome 21

Answer 13

down syndrome

Question 14

chromosome 22

Answer 14

neurofibromatosis type 2, digeorge syndrome (22q11)

Question 15

X

Answer 15

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

Question 16

wilms tumor

Answer 16

11

Question 17

ADPKD (PKD1)

Answer 17

16

Question 18

DiGeorge syndrome

Answer 18

22 (22q11)

Question 19

Prader-Willi syndrome

Answer 19

15

Question 20

Williams syndrome

Answer 20

7

Question 21

Hemochromatosis (HFE)

Answer 21

6

Question 22

Friedreich ataxia

Answer 22

9

Question 23

Edwards syndrome

Answer 23

18

Question 24

Down syndrome

Answer 24

21

Question 25

cystic fibrosis

Answer 25

7

Question 26

cri du chat syndrome

Answer 26

5

Question 27

familial adenomatous polyposis

Answer 27

5

Question 28

achondroplasia

Answer 28

4

Question 29

renal cell carcinoma

Answer 29

3

Question 30

a-globin defects (a-thalassemias)

Answer 30

16

Question 31

retinoblastoma (RB1)

Answer 31

13

Question 32

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

Answer 32

11

Question 33

ADPKD (PKD2)

Answer 33

4