Pre-Assessment for Genetic Basis of Disease (DA)

Question 1

Which of the following disorders are autosomal recessive? Select all that apply.

Gaucher disease
Cystic fibrosis
Down syndrome
Huntington’s disease
Familial adenomatous polyposis

Answer 1

Cystic fibrosis

Question 2

Which of the following conditions results from aneuploidy? Select all that apply.

Cystic fibrosis
Klinefelter syndrome
Marfan syndrome
Familial hypercholesterolemia
Down syndrome

Answer 2

Klinefelter syndrome

Down syndrome

Question 3

Based on which external features will you determine the client has Down syndrome? Select all that apply.

Flat facial profile
Webbed neck
Large, everted ears
Epicanthic folds around the eyes
Dancelike movements or tics

Answer 3

Flat facial profile

Epicanthic folds around the eyes

Question 4

Which of the following is true regarding Klinefelter syndrome?

Affects both males and females
Represented by XXY
Affects females only
Represented by XO

Answer 4

Represented by XXY

Question 5

Which treatment options are available to clients with Turner syndrome? Select all that apply.

Symptomatic treatment
Estrogen therapy
Growth hormone administration
Insulin therapy
Enzyme replacement therapy

Answer 5

Growth hormone administration

Estrogen therapy