Autosomal Dominant and Recessive Diseases

Question 1

Autosomal dominant vs recessive: Achondroplasia

Answer 1

Dominant

Question 2

Autosomal dominant vs recessive: Thanatoporic dysplasia

Answer 2

Dominant

Question 3

Autosomal dominant vs recessive: CAH

Answer 3

Recessive

Question 4

Autosomal dominant vs recessive: PKU

Answer 4

Recessive

Question 5

Autosomal dominant vs recessive: Crouzon with acanthosis nigricans

Answer 5

Dominant

Question 6

Autosomal dominant vs recessive: Nonsyndromic craniosynostosis

Answer 6

Dominant

Question 7

Autosomal dominant vs recessive: CF

Answer 7

Recessive

Question 8

Autosomal dominant vs recessive: Friedrich ataxia

Answer 8

Recessive

Question 9

Autosomal dominant vs recessive: NF1

Answer 9

Dominant

Question 10

Autosomal dominant vs recessive: NF2

Answer 10

Dominant

Question 11

Autosomal dominant vs recessive: Gaucher

Answer 11

Recessive

Question 12

Autosomal dominant vs recessive: Sickle cell disease

Answer 12

Recessive

Question 13

Autosomal dominant vs recessive: Huntington

Answer 13

Dominant

Question 14

Autosomal dominant vs recessive: Myotonic dystrophy

Answer 14

Dominant

Question 15

Autosomal dominant vs recessive: Marfan

Answer 15

Dominant

Question 16

Autosomal dominant vs recessive: Hereditary angioneurotic edema

Answer 16

Dominant

Question 17

Autosomal dominant vs recessive: Trait appears every generation

Answer 17

Dominant

Question 18

Autosomal dominant vs recessive: Appears in siblings, not in their parents or their offspring

Answer 18

Recessive

Question 19

Autosomal dominant vs recessive: Each child of an affected person has 1 in 2 chance of being affected

Answer 19

Dominant

Question 20

Autosomal dominant vs recessive: On average, 25% of siblings of the proband are affected

Answer 20

Recessive

Question 21

Autosomal dominant vs recessive: At the time of conception, each sibling has a 25% chance of being affected

Answer 21

Recessive

Question 22

Autosomal dominant vs recessive: Males and females equally affected

Answer 22

Dominant and recessive

Question 23

Autosomal dominant vs recessive: Male-to-male transmission occurs

Answer 23

Dominant

Question 24

Autosomal dominant vs recessive: Normal sibling of an affected individual has a 2/3 chance of being a carrier

Answer 24

Recessive

Question 25

Autosomal dominant vs recessive: Traits generally involve mutations in genes that code for regulatory or structural proteins, e.g. collagen

Answer 25

Dominant

Question 26

Seen predominantly in Ashkenazi jews

Answer 26

Gaucher

Question 27

Autosomal dominant vs recessive: Likely associated with parental consanguinity

Answer 27

Recessive

Question 28

Autosomal dominant vs recessive: Traits generally involve mutations in genes that code for enzymes

Answer 28

Recessive

Question 29

Autosomal dominant vs recessive: Associated with serious illness and shortened lifespan

Answer 29

Recessive