Autosomal Dominant and Recessive Diseases

Question 1

Cystic Fibrosis

Answer 1

Autosomal Recessive

Question 2

PKU

Answer 2

Autosomal Recessive

Question 3

Postaxial polydactyly

Answer 3

Autosomal Dominant

Question 4

Marfan’s

Answer 4

Autosomal Dominant (pleiotropic)

Question 5

Huntington’s

Answer 5

Autosomal Dominant (Late Onset)

Question 6

Neurofibromatosis type I

Answer 6

Autosomal Dominant (variable expression mild to severe)

Question 7

Retinoblastoma

Answer 7

Autosomal Dominant (reduced pentrance)

Question 8

Factor V Leiden

Answer 8

Autosomal Dominant (Severe as homozygote)

Question 9

BRCA1 and BRCA2 mutations

Answer 9

Autosomal Dominant (but appear only in females)

Question 10

Tyrosinase-negative albinism

Answer 10

Autosomal Recessive; metabolic block in the synthesis of melanin

Question 11

CFTR

Answer 11

Autosomal Recessive

Question 12

Hereditary hemochromatosis

Answer 12

Autosomal Recessive

Question 13

Tay Sach’s

Answer 13

Autosomal Recessive

Question 14

Sickle Cell

Answer 14

Autosomal Recessive

Question 15

Wilson disease

Answer 15

Autosomal Recessive (very rare, consanguinity, Copper is retained in the liver and brain)

Question 16

Gaucher disease

Answer 16

Autosomal Recessive

Question 17

Horizontal transmission

Answer 17

Autosomal Recessive

Question 18

Vertical transmission

Answer 18

Autosomal Dominant

Question 19

Skipped generations

Answer 19

Autosomal Recessive

Question 20

No skipped generations

Answer 20

Autosomal Dominant

Question 21

Unaffected individual will not have affected offspring

Answer 21

Autosomal Dominant

Question 22

Unaffected individual may have affected offspring

Answer 22

Autosomal Recessive

Question 23

Seen in multiple siblings but not in earlier generations

Answer 23

Autosomal Recessive

Question 24

Hurler Syndrome

Answer 24

Autosomal Recessive

Question 25

Consanguinity

Answer 25

Mating of closely related individuals (common in many cultures)

Question 26

Achondroplasia

Answer 26

Autosomal Dominant (Severe as homozygote)

Question 27

Osteogenesis Imperfecta

Answer 27

Autosomal dominant - Example of heterogeneity and type II is an example of germline mosaicism

Question 28

Examples of Germline Mosaicism

Answer 28

Osteogenesis Imperfecta type II, achondroplasia, neurofibromatosis type I, Duchenne muscular dystrophy, Hemophilia A

Question 29

Angelman Syndrome

Answer 29

Genomic imprinting + deletion on maternal chromosome 15, MR, seizures, ataxic gait

Question 30

Prader-Wili

Answer 30

Genomic imprinting + deletion on paternal chromosome 15, short stature, small hands, obesity, mild to moderate MR, hypogonadism