Modes of Inheritance

Question 1

Prader-Willi

Answer 1

Maternal imprinting (paternal deletion)

Question 2

Angelman Syndrome

Answer 2

Paternal imprinting (maternal deletion)

Question 3

ADPKD

Answer 3

Autosomal Dominant

Question 4

ARPKD

Answer 4

Autosomal Recessive

Question 5

Menkes Disease

Answer 5

X-linked Recessive (impaired copper absorption- brittle “kinky” hair, growth retardation, and hypotonia)

Question 6

Lesch-Nyan Syndrome

Answer 6

X-Linked Recessive

Question 7

Familial Adenomatous Polyposis

Answer 7

Autosomal Dominant

Question 8

Familial hypercholesterolemia

Answer 8

Autosomal Dominant

Question 9

Hereditary hemorrhagic telangiectasia

Answer 9

Autosomal Dominant

Question 10

Hereditary Spherocytosis

Answer 10

Autosomal Dominant

Question 11

Huntington Disease

Answer 11

Autosomal Dominant, anticipation, CAG repeat

Question 12

Li-Fraumeni Syndrome

Answer 12

Autosomal Dominant

Question 13

Albinism

Answer 13

Autosomal Recessive

Question 14

Cystic Fibrosis

Answer 14

Autosomal Recessive

Question 15

Glycogen Storage Diseases

Answer 15

Autosomal Recessive

Question 16

Hemochromatosis

Answer 16

Autosomal Recessive

Question 17

Kartagener Syndrome

Answer 17

Autosomal Recessive

Question 18

Mucopolysaccharidoses (except Hunter)

Answer 18

Autosomal Recessive

Question 19

PKU

Answer 19

Autosomal Recessive

Question 20

Sickle Cell Anemia

Answer 20

Autosomal Recessive

Question 21

Sphingolipidoses (except Fabry)

Answer 21

Autosomal Recessive

Question 22

Thalassemias

Answer 22

Autosomal Recessive

Question 23

Wilson Disease

Answer 23

Autosomal Recessive

Question 24

Marfan Syndrome

Answer 24

Autosomal Dominant

Question 25

MEN Syndromes

Answer 25

Autosomal Dominant

Question 26

Neurofibromatosis type I (von Recklinghausen Disease)

Answer 26

Autosomal Dominant

Question 27

Neurofibromatosis type II

Answer 27

Autosomal Dominant

Question 28

Tuberous Sclerosis

Answer 28

Autosomal Dominant

Question 29

von Hippel-Lindau Disease

Answer 29

Autosomal Dominant

Question 30

Bruton's agammaglobinemia

Answer 30

X-Linked Recessive

Question 31

Wiskott-Aldrich Syndrome

Answer 31

X-Linked Recessive

Question 32

Fabry Disease

Answer 32

X-Linked Recessive

Question 33

G6PD Deficiency

Answer 33

X-Linked Recessive

Question 34

Ocular Albinism

Answer 34

X-Linked Recessive

Question 35

Duchenne Muscular Dystrophy

Answer 35

X-Linked Recessive

Question 36

Becker Muscular Dystrophy

Answer 36

X-Linked Recessive

Question 37

Hunter Syndrome

Answer 37

X-Linked Recessive

Question 38

Hemophilia A

Answer 38

X-Linked Recessive

Question 39

Hemophilia B (Christmas Disease)

Answer 39

X-Linked Recessive

Question 40

OTC Deficiency

Answer 40

X-Linked Recessive

Question 41

Myotonic Type I Muscular Dystrophy

Answer 41

Autosomal Dominant (CTG repeat)

Question 42

Fragile X Syndrome

Answer 42

X-linked Dominant, (CGG repeat)

Question 43

Down Syndrome

Answer 43

Trisomy 21- meiotic disjunction (95% of cases)

Question 44

Edwards Syndrome

Answer 44

Trisomy 18- meiotic disjunction

Question 45

Patau Syndrome

Answer 45

Trisomy 13 meiotic disjunction or Robertsonian translocation