Genetics - Chromosomes and Associated Disorders

Question 1

Give the associated genetic disorder with chromosome 3.

Answer 1

von Hippel-Lindau

Renal cell carcinoma

Question 2

Give the associated genetic disorder with chromosome 4.

Answer 2

ADPKD (PKD2)
Achondroplasia
Huntington disease

Question 3

Give the associated genetic disorder with chromosome 5.

Answer 3

Cri-du-chat syndrome

Familial adenomatous polyposus

Question 4

Give the associated genetic disorder with chromosome 6.

Answer 4

Hemochromatosis (HFE)

Question 5

Give the associated genetic disorder with chromosome 7

Answer 5

Williams syndrome

Cystic fibrosis

Question 6

Give the associated genetic disorder with chromosome 9.

Answer 6

Friedreich Ataxia

Question 7

Give the associated genetic disorder with chromosome 11.

Answer 7

Wilms tumor

beta-globin gene defects (ie SCD, beta-thalassemia)

Question 8

Give the associated genetic disorder with chromosome 13.

Answer 8

Patau syndrome
Wilson disease
Retinoblastoma (RB1)
BRCA2

Question 9

Give the associated genetic disorder with chromosome 15.

Answer 9

Prader-Willi syndrome
Angelmann syndrome
Marfan syndrome

Question 10

Give the associated genetic disorder with chromosome 16.

Answer 10

ADPKD (PKD1)

alpha-globin gene defects (ie alpha-thalassemia)

Question 11

Give the associated genetic disorder with chromosome 17.

Answer 11

Neurofibromatosis type 1

BRCA1

Question 12

Give the associated genetic disorder with chromosome 18.

Answer 12

Edwards syndrome

Question 13

Give the associated genetic disorder with chromosome 22.

Answer 13

Neurofibromatosis type 2
DiGeorge syndrome (22q11)

Question 14

Give the associated genetic disorder with chromosome X.

Answer 14

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