AUTOSOMAL DOMINANT DISEASES

Question 1

what percent of offspring will inherit the gene?

Answer 1

50%

Question 2

when do the clinical features occur?

Answer 2

later than w/ autosomal recessive diseases

Question 3

disorder of connective tissues of the body, occurring primarily in skeleton, eyes, and CV

Answer 3

Marfan Syndrome

Question 4

short-limbed dwarfism w/ large head size

Answer 4

Achondroplasia

Question 5

progressive dementia and choreic (dance-like, uncontrollable movements)

Answer 5

Huntington Disease

Question 6

have reduced penetrance and variable expressivity

Answer 6

Split Hand Split Foot

Question 7

a “zero fitness” disorder (so 100% are new mutations)

mutation in the Fibroblast GF receptor-2 on chromosome 10

Answer 7

Acrocephalosyndactyly (Apert’s Syndrome)

Question 8

due to mutations on chromosomes 9 or 16

Answer 8

Tuberous Sclerosis