Genetic disorders by chromosome

Question 1

vHL

Answer 1

3 (vHL)

Question 2

Renal cell carcinoma

Answer 2

3

Question 3

ADPKD (PKD2)

Answer 3

4

Question 4

Achondroplasia

Answer 4

4 (FGFR3)

• 4 letters in FGFR

Question 5

Huntington’s

Answer 5

4

• HUNT has 4 letters

Question 6

Cri-du-chat

Answer 6

5 (5p deletion)

Question 7

Familial adenomatous polyposis

Answer 7

5 (FAP)

• POLYP has 5 letters

Question 8

Hemochromatosis

Answer 8

6 (HFE)

• heme sounds like hexagon which has SIX sides

Question 9

Williams syndrome

Answer 9

7 (seven sounds like ElfiN)

Question 10

Cystic fibrosis

Answer 10

7 (CFTR)

Question 11

Friedreich ataxia

Answer 11

9 (The frat boy I want to date is on my lucky number)

Question 12

Wilm’s tumor

Answer 12

11 (WAGR = wilm’s, aniridia, genitourinary malformation, retardation)

Question 13

B-globin gene defects (sickle cell, B-thal)

Answer 13

11

Question 14

Patau syndrome

Answer 14

13 (puberty)

Question 15

Wilson’s disease

Answer 15

13 (ATP7B)

Question 16

Retinoblastoma (RB1)

Answer 16

13

Question 17

BRCA2

Answer 17

13

Question 18

Prader-Willi syndrome

Answer 18

15

Question 19

Angelman syndrome

Answer 19

15

Question 20

Marfan syndrome

Answer 20

15 (fibrillin)

Question 21

ADPKD (PKD1)

Answer 21

16 (sixteen for cystic)

Question 22

alpha-globin gene defects (alpha-thal)

Answer 22

16

Question 23

NF type 1

Answer 23

17 (NF1)

Question 24

BRCA1

Answer 24

17

Question 25

Edward’s syndrome

Answer 25

18 (Election)

Question 26

Down syndrome

Answer 26

21

Question 27

NF type 2

Answer 27

22 (NF2- two for 22)

Question 28

DiGeorge syndrome

Answer 28

22q11 del

Question 29

Fragile X

Answer 29

X (just in case it wasn’t obvious, lol)

Question 30

X-linked agammaglobulinemia

Answer 30

X (just in case it wasn’t obvious, lol)

Question 31

p is which arm

Answer 31

short

p is for petit

Question 32

q is which arm

Answer 32

long