Chapter 6 - Genetics

Question 1

Gimme two AD disorders with incomplete penetrance

Answer 1

Marfan s, BRCA1 gene mutations

Question 2

Gimme one AD disorder with variable expressivity

Answer 2

Neurofibromatosis type 1

Question 3

Gimme one AD disorder with complete penetrance.

Answer 3

Familial polyposis

Question 4

Which congenital kidney disorder may be seen in Turner syndrome?

Answer 4

Horshoe kidneys

Question 5

Give me 2 examples of mitochondrial inherited disorders.

Answer 5

1. Leber hereditary optic neuropathy

2. Myoclonic epilepsy

Question 6

Which is the happy puppet syndrome?

Answer 6

Angelman s

Question 7

SRY gene encodes for what?

Answer 7

testis-determining factor

Question 8

Which is the leading cause of congenital mental retardation in the Western countries?

Answer 8

Fetal alcohol syndrome

Question 9

AFP is decreased in … and increased in …

Answer 9

Down s. - Open neural tube defects

Question 10

Which is the MC cancer in men?

Answer 10

Prostate ca

Question 11

Renal and aging. How much is GFR decreased per decade, starting from what age?

Answer 11

10%. Starting from 30.

Also, from 30-80 kidney loses 20-25% of its mass

Question 12

Which is the MCC of monoclonal gammopathy in the elderly?

Answer 12

MGUS