Pedigrees - Inheritance patterns

Question 1

CFTR

Answer 1

Autosomal Recessive - CFTR

Question 2

Sickle Cell Anemia

Answer 2

Autosomal Recessive - HBB

Question 3

Beta Thalassemia

Answer 3

Autosomal Recessive - HBB

Question 4

PKU

Answer 4

Autosomal Recessive - PKU

Question 5

Spinal Muscular Atrophy

Answer 5

Autosomal Recessive - SMN1

Question 6

Huntington’s

Answer 6

Autosomal Dominant

Question 7

Marfan’s

Answer 7

Autosomal Dominant

Question 8

Hemophilia

Answer 8

X linked Recessive

Question 9

Duchenne Muscular Dystrophy

Answer 9

X linke Recessive

Question 10

Information to collect for Family Hx

Answer 10

Age or age at death, 
cause of death if applicable
Major illnesses
age of onset
Maternal or Paternal
Ethnicity

Question 11

Macular Degeneration

Answer 11

Autosomal Dominant

Question 12

Penetrance

Answer 12

The % of individuals with the gene that express the gene

Question 13

What is the two hit hypothesis

Answer 13

That to obtain two mutated or faulty genes happens as two independent events or mutations over time, can both be de novo or one can be inherited and one can be de novo

Question 14

Expressivity

Answer 14

The severity of a disorder ranging from minimal to severe

Question 15

Cosanguinity

Answer 15

procreation with family members

Question 16

Achondroplasia

Answer 16

Autosomal dominant

Question 17

Familial hypercholesterolemia

Answer 17

autosomal dominant

Question 18

Polycystic kidney Disease

Answer 18

Autosomal dominant