GENETIC DISORDERS

Question 1

von Hippel-Lindau disease Renal cell carcinoma

Answer 1

3

Question 2

AD Polycystic kidney disease (PKD2)
Achondroplasia
Huntington disease

Answer 2

4

Question 3

Cri-du-chat syndrome

Familial adenomatous polyposis

Answer 3

5

Question 4

Primary hemochromatosis

Answer 4

6

Question 5

Williams syndrome

Cystic fibrosis

Answer 5

7

Question 6

Friedreich ataxia 
Tuberous sclerosis (TSC1)

Answer 6

9

Question 7

Wilms tumor Beta-thalassemia Sickle cell disease MEN1

Answer 7

11

Question 8

Patau syndrome
Wilson disease
Retinoblastoma
BRCA2-associated disorders

Answer 8

13

Question 9

Prader-Willi syndrome Angelman syndrome

Marfan syndrome

Answer 9

15

Question 10

AD Polycystic kidney disease (PKD1)
Alpha-thalassemia
Tuberous sclerosis (TSC2)

Answer 10

16

AD Polycystic kidney disease (PKD2) –> 4

Tuberous sclerosis (TSC1) —> 9

Question 11

Neurofibromatosis type 1 BRCA1-associated disorders TP53-associated disorders

Answer 11

17

Question 12

Edwards syndrome

Answer 12

18

Question 13

Down syndrome

Answer 13

21

Question 14

Neurofibromatosis type 2 DiGeorge syndrome (22q11)

Answer 14

22

Question 15

Fragile X syndrome
X-linked agammaglobulinemia
Klinefelter syndrome

Answer 15

X