chr number

Question 1

von hippel disease

Answer 1

ch 3

Question 2

renal cell carcinoma

Answer 2

ch 3

Question 3

huntington

Answer 3

chr4

Question 4

achondroplasia

Answer 4

chr 4

Question 5

ADPKD

Answer 5

ch4(less common) and chr 16 (more common )

Question 6

cri du chat

Answer 6

chr 5

Question 7

FAP

Answer 7

chr 5

Question 8

hemachromatosis

Answer 8

chr 6

Question 9

williams syndrome

Answer 9

ch 7

notes - elfin-friendly with strangers-HYPErcalcemia

Question 10

cystic fibrosis

Answer 10

chr 7

Question 11

friedrich ataxia

Answer 11

chr 9

Question 12

tuberous sclerosis 1 and 2

Answer 12

chr 9 , 16

Question 13

willms tumor

Answer 13

chr 11

Question 14

b globin gene

Answer 14

chr 11

Question 15

b thalessemia

Answer 15

chr 11

Question 16

men 1

Answer 16

chr 11

Question 17

patau syndromw

Answer 17

13

Question 18

wilson syndrome

Answer 18

13

Question 19

retinoblastoma

Answer 19

13

Question 20

brca2

Answer 20

13

Question 21

praderwilli

Answer 21

15

Question 22

angelman

Answer 22

15

Question 23

marfan

Answer 23

15

Question 24

a globin gene defect

Answer 24

16

Question 25

neurofibromatosis 1`

Answer 25

17

Question 26

BRCA 1

Answer 26

17

Question 27

p53

Answer 27

17

Question 28

edwards

Answer 28

18

Question 29

down syndrome

Answer 29

21

Question 30

NF2

Answer 30

22

Question 31

digeorge

Answer 31

22

Question 32

chr 3

Answer 32

von hipple lindau, renal cell carcinoma

Question 33

4

Answer 33

ADPKD (PKD2), achondroplasia, Huntington disease

Question 34

5

Answer 34

Cri-du-chat syndrome, familial adenomatous polyposis

Question 35

6

Answer 35

I lemochromatosis (HFE

Question 36

7

Answer 36

Williams syndrome, cystic fibrosis

Question 37

9

Answer 37

Friedreich ataxia, tuberous sclerosis (TSCI

Question 38

11

Answer 38

Wilms tumor, P-globin gene defects (eg, sickle cell disease, P-thalassemia), MEN1

Question 39

13

Answer 39

Patau syndrome, Wilson disease, retinoblastoma (RBI), BRCA2

Question 40

15

Answer 40

Prader-Willi syndrome, Angel man syndrome, Marfan syndrome

Question 41

16

Answer 41

ADPKD (PKDI), a-globin gene defects (eg, a-thalassemia), tuberous sclerosis (TSC2

Question 42

17

Answer 42

Neurofibromatosis type I, BRCAl, P53

Question 43

18

Answer 43

Edwards syndrome

Question 44

21

Answer 44

vDown syndrome

Question 45

22

Answer 45

Neurofibromatosis type 2, DiCeorge syndrome (22ql I)

Question 46

x

Answer 46

Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY

Question 47

williams, wilms and wilson chromsomes

Answer 47

williams –7
wilms-11
wilson-13