Genetic Diseases by Chromosome

Question 1

chromosome 3

Answer 1

von Hippel-Lindau disease, renal cell carcinoma

Question 2

chromosome 4

Answer 2

autosomal dominant polycystic kidney disease (PKD2), achondroplasia, Huntington disease

Question 3

chromosome 5

Answer 3

cri-di-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

Friedreich ataxia, tuberous sclerosis (TSC1)

Question 7

chromosome 11

Answer 7

Wilms tumor, beta-globin gene defects (sickle cell disease, B-thalassemia), MEN1

Question 8

chromosome 13

Answer 8

Patau syndrome (trisomy), Wilson disease, retinoblastoma (RB1), BRCA2

Question 9

chromosome 15

Answer 9

Prader-Willi syndrome, Angelman syndrome, Marfan syndrome

Question 10

chromosome 16

Answer 10

autosomal dominant polycystic kidney disease (PKD1), alpha-globin gene defects (alpha-thalassemia), tuberous sclerosis (TSC2)

Question 11

chromosome 17

Answer 11

neurofibromatosis type 1, BRCA1, TP53 (Li-Fraumeni syndrome)

Question 12

chromosome 18

Answer 12

Edwards syndrome (trisomy)

Question 13

chromosome 21

Answer 13

Down syndrome (trisomy)

Question 14

chromosome 22

Answer 14

neurofibromatosis type 2, DiGeorge syndrome (22q11)

Question 15

X chromosome

Answer 15

fragile X syndrome, X-lined agammaglobulinemia, Klinefelter syndrome (XXY)