Genetic Conditions

Question 1

Neurofibromatosis pattern of inheritance?

Answer 1

Autosomal dominant OR de novo (50% cases)

Question 2

Neurofibromatosis s/s?

Answer 2

Cafe au lait spots, neurofibromas, freckling, optic glioma, bony lesions

Question 3

Huntington disease pattern of inheritance?

Answer 3

Autosomal dominant

Question 4

Huntington disease MOA?

Answer 4

Loss of cells in basal ganglia

Question 5

Huntington disease s/s?

Answer 5

Cognitive changes, movement issues, emotional control issues; onset at 30-50 and deterioration over 10-25 years

Question 6

Neurofibromatosis MOA?

Answer 6

NF1 mutation

Question 7

BRCA1 pattern of inheritance?

Answer 7

Autosomal dominant

Question 8

Neurofibromatosis, Marfan Syndrome, and Achondroplasia are all examples of conditions that are commonly caused by…

Answer 8

De novo mutations

Question 9

Sickle cell disease pattern of inheritance?

Answer 9

Autosomal recessive

Question 10

PKU pattern of inheritance?

Answer 10

Autosomal recessive

Question 11

DMD pattern of inheritance?

Answer 11

X-linked recessive

Question 12

Hemophilia A and B pattern of inheritance?

Answer 12

X-linked recessive

Question 13

Hypophosphatemic rickets and incontinentia pigmenti pattern of inheritance?

Answer 13

X-linked recessive

Question 14

MELAS is an example of…

Answer 14

Mitochondrial disorder

Question 15

Mitochondrial disorders affect…

Answer 15

systems with high energy requirements

Question 16

Leber’s hereditary optic neuropathy pattern of inheritance?

Answer 16

Mitochondrial inheritance

Question 17

Li-Fraumeni syndrome causes…

Answer 17

increased risk of many cancers at a younger age, i.e. breast, osteosarcoma, and soft tissue sarcomas

Question 18

Li-Fraumeni syndrome pattern of inheritance?

Answer 18

Autosomal dominant