Single Gene Disorder

Question 1

Familial spherocytosis

Answer 1

Autosomal dominant disorder

Question 2

Von willebrant disease

Answer 2

Autosomal dominant disorder

Question 3

Neurofibromatosis

Answer 3

Autosomal dominant disorder

Question 4

Tuberous sclerosis

Answer 4

Autosomal dominant disorder

Question 5

Myotonic dystrophy

Answer 5

Autosomal dominant disorder

Question 6

Huntington disease

Answer 6

Autosomal dominant disorder

Question 7

Polycystic kidney disease

Answer 7

Autosomal dominant disorder

Question 8

Marfan syndrome

Answer 8

Autosomal dominant disorder

Question 9

Osteogenesis imperfecta

Answer 9

Autosomal dominant disorder

Question 10

Achondroplasia

Answer 10

Autosomal dominant disorder

Question 11

Ehlers danlos syndrome

Answer 11

Autosomal dominant disorder and Autosomal recessive disorder

Question 12

Familial hypercholesterolosis

Answer 12

Autosomal dominant disorder

Question 13

Acute intermittent porphyria

Answer 13

Autosomal dominant disorder

Question 14

Largest category of Mendelian disorder

Answer 14

Autosomal recessive disorder

Question 15

Features of Autosomal recessive disorder (3)

Answer 15

1. Parents unaffected, sibling may be affected
2. 1 in 4 chance (25%risk of being affected)
3. Results from “consanguineous” marriage - same blood/siblings

Question 16

Sickle cell anemia

Answer 16

Autosomal recessive disorder

Question 17

Thalassemia

Answer 17

Autosomal recessive disorder

Question 18

Congenital adrenal hyperplasia

Answer 18

Autosomal recessive disorder

Question 19

Neurogenic muscular atrophies

Answer 19

Autosomal recessive disorder

Question 20

Friedreich ataxia

Answer 20

Autosomal recessive disorder

Question 21

Spinal muscular atrophy

Answer 21

Autosomal recessive disorder

Question 22

Alkaptonuria

Answer 22

Autosomal recessive disorder

Question 23

Cystic fibrosis

Answer 23

Autosomal recessive disorder

Question 24

Phenylketonuria

Answer 24

Autosomal recessive disorder

Question 25

Galactosemia

Answer 25

Autosomal recessive disorder

Question 26

Homocystinuria

Answer 26

Autosomal recessive disorder

Question 27

Alpha antitripsin deficiency

Answer 27

Autosomal recessive disorder

Question 28

Wilson disease

Answer 28

Autosomal recessive disorder

Question 29

Hemochromatosis

Answer 29

Autosomal recessive disorder

Question 30

Glycogen storage disease

Answer 30

Autosomal recessive disorder

Question 31

Duchenne muscular dystrophy

Answer 31

X linked Recessive

Question 32

Hemophilia A n B

Answer 32

X linked Recessive

Question 33

Chronic granulomatous disease

Answer 33

X linked Recessive

Question 34

G6pD deficiency

Answer 34

X linked Recessive

Question 35

Agammaglobulinemia

Answer 35

X linked Recessive

Question 36

Wiskott Aldrich syndrome

Answer 36

X linked Recessive

Question 37

Diabetes insipidus

Answer 37

X linked Recessive

Question 38

Lesch nyhan syndrome

Answer 38

X linked Recessive

Question 39

Fragile X syndrome

Answer 39

X linked Recessive

Question 40

Diabetes mellitus

Answer 40

Non of the above

Question 41

Tuberculosis

Answer 41

Non of the above

Question 42

Familial polyposis coli

Answer 42

Autosomal dominant disorder