Genetic disorders by chromosome (Pg. 64)

Question 1

Disorders - Cr 3

Answer 1

von Hippel-Lindau disease, renal cell carcinoma

Question 2

Disorders - Cr 4

Answer 2

ADPKD (PKD2), achondroplasia, Huntington disease

Question 3

Disorders - Cr 5

Answer 3

Cri-du-chat syndrome, familial adenomatous polyposis

Question 4

Disorders - Cr 6

Answer 4

Hemochromatosis (HFE)

Question 5

Disorders - Cr 7

Answer 5

Williams syndrome, cystic fibrosis

Question 6

Disorders - Cr 9

Answer 6

Friedreich ataxia, tuberous sclerosis (TSC1)

Question 7

Disorders - Cr 11

Answer 7

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

Question 8

Disorders - Cr 13

Answer 8

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

Question 9

Disorders - Cr 15

Answer 9

Prader-Willi syndrome, Angelman syndrome, Marfan syndrome

Question 10

Disorders - Cr 16

Answer 10

ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia), tuberous sclerosis (TSC2)

Question 11

Disorders - Cr 17

Answer 11

Neurofibromatosis type 1, BRCA1, p53

Question 12

Disorders - Cr 18

Answer 12

Edwards syndrome

Question 13

Disorders - Cr 21

Answer 13

Down syndrome

Question 14

Disorders - Cr 22

Answer 14

Neuro bromatosis type 2, DiGeorge syndrome (22q11)

Question 15

Disorders - Cr X

Answer 15

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