Chromosomes

Question 1

t8:14

Answer 1

Burkitt’s lymphoma

Question 2

t 11:22

Answer 2

Ewing’s sarcoma

Question 3

t 9:22

Answer 3

CML

Question 4

t 11:14

Answer 4

Mantle cell lymphoma

Question 5

t 14:18

Answer 5

Folicular lymphoma

Question 6

chromosome 13

Answer 6

Rb Retinoblastoma, Wilsons and BRCA2

Question 7

chromosome 3

Answer 7

VHL Von Hippel Lindau, Renal Cell Ca

Question 8

chromosome 11

Answer 8

WT1 & WT2, B globin gene defects (sickle cell anemia, B thalassemia, MEN1)

Question 9

17p13.1

Answer 9

Li Fraumeni syndrome

Question 10

17q12-21

Answer 10

BRCA1 ovarian and breast ca

Question 11

13q12-13

Answer 11

BRCA2 breast ca

Question 12

chromosome 5

Answer 12

adenomatous polyposis coli & cri du chat

Question 13

17q11.2

Answer 13

NF-1 Neurofibromatosis type 2

Question 14

22q12

Answer 14

NF 2 neurofibromatosis type 2

Question 15

chromosome 9

Answer 15

Frataxin/ Friedrich ataxia

Question 16

22q11 deletion

Answer 16

Di George Syndrome

Question 17

Chromosome 15

Answer 17

Fibrillin/ Marfan syndrome, Prader willi and Angelman

Question 18

Chromosome 16

Answer 18

APKD 1/Adult polycystic kidney disease, a Globin chain (a thalassemia)

Question 19

Chromosome 4

Answer 19

APKD 2/ Adult Polycystic Kidney Disease, achindroplasia, huntingtons

Question 20

alkaptonuria

Answer 20

chromosome 3; homogentisic acid oxidase

Question 21

Hartnup disease

Answer 21

Chromosome 5 (5p15) defective transport of neutral amino acid vs cystinuria - defective transport of dibasic amino acid

Question 22

Renal diseases linked to Chromosome 16

Answer 22

Gitelman’s syndrome & Renal Glucosuria

Question 23

ALK-1/ENG

Answer 23

Hereditary Hemorrhagic Telengiectasia

Question 24

HFE gene

Answer 24

Hereditary Hemochromatosis

Question 25

WASP gene

Answer 25

Wiskott Aldrich Syndrome

Question 26

neurofibromatosis

Answer 26

NF2 gene found in chromosome 22

Question 27

chromosome 10

Answer 27

RET proto-oncogene; MEN 2A & MEN2B

Question 28

chromosome 17

Answer 28

Li Fraumeni syndrome, NF1, BRCA1

Question 29

COL1A1 COL1A2

Answer 29

Osteogenesis Imperfecta

Question 30

COL5A1 AND COL5A2

Answer 30

Ehker Danlos Classic Type- joint and skin Collagen typenV

Question 31

FBN1 mutation on chr.5

Answer 31

Marfan syndrome

Question 32

chromosome 7, deletion of Phe508

Answer 32

cystic fibrosis; most lethal disease in the caucasian population

Question 33

chromosome 6

Answer 33

Hemochromatosis

Question 34

Chromosome 7

Answer 34

Williams syndrome, cystic fibrosis

Question 35

chromosome 22

Answer 35

NF2, Di George syndrome