Diseases

Question 1

Autosomal Dominant Polycystic Kidney Disease

Answer 1

Chromosome 16

PKD1 mutation in 85%

Question 2

Familial Adenomatous Polyposis

Answer 2

Chromosome 5

APC gene

Question 3

Huntington’s Disease

Answer 3

Chromosome 4

Trinucleotide repeat disorder (CAG)

Question 4

Neurofibromatosis type 1

Answer 4

Chromosome 17

Long arm

Question 5

Neurofibromatosis type 2

Answer 5

Chromsome 22

NF2 gene

Question 6

von Hippel-Lindau disease

Answer 6

Chromsone 3p

VHL gene (tumor suppressor)

Question 7

Cystic Fibrosis

Answer 7

Chromosome 7

CFTR gene (Auto recessive)

Question 8

Down Syndrome

Answer 8

Trisomy 21

Question 9

Edwards’ Syndrome

Answer 9

Trisomy 18

Question 10

Patau’s Syndrome

Answer 10

Trisomy 13

Question 11

Robertsonian translocation

Answer 11

Nonreciprocal chromosomal translocation that commonly invovles chromosome paris 13, 14, 15, 21, and 22.

Question 12

Cri-du-chat syndrome

Answer 12

Chromosome 5

Microdeletion of the short arm

Question 13

Williams Syndrome

Answer 13

Chromosome 7

Microdeletion of the long arm

Question 14

DiGeorge Syndrome

Answer 14

Chromosome 22q11 deletion

Question 15

Velocardiofacial Syndrome

Answer 15

Chromosome 22q11 deletion

Question 16

Bruton’s Agammaglobulinemia

Answer 16

X-linked recessive

Defect in BTK - tyrosine kinase gene

Question 17

Severe Combined Immunodeficiency (SCID)

Answer 17

X-linked when defective IL-2 receptor

Question 18

Wiskott-Aldrich Syndrome

Answer 18

X-linked

WAS gene on X chromosome