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ATI RN · Obstetrics and Pediatrics · Pediatric Genetics

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Showing all 5 practice questions with expert explanatory rationales.

Question 1 of 5

Cystic fibrosis is the most common autosomal recessive disorder in caucasian children with an occurrence of 1 in 2000 in Caucasian populations and about 1/22 carriers in Caucasian populations. Assuming that these data are applicable to a Norwegian community in U.S.A comprising of 16000 people, the percentage of all the CF genes hidden carriers and in patients in this community are respectively:

A. 96.2% and 3.8%

B. 97.8% and 2.2%

C. 95% and 5%

D. 99.1% and 0.99%

Expert Explanatory Rationale

Correct Answer: 97.8% and 2.2%

Question 2 of 5

A variant that results in genetic mosaicism is:

A. a germline variant

B. a somatic variant

C. a dynamic variant

D. a permutation

Expert Explanatory Rationale

Correct Answer: a somatic variant

Question 3 of 5

Patients with Turner syndrome should undergo careful analysis of their chromosomes for Y chromosome material because they may

A. become masculinized

B. grow tall

C. become pregnant

D. none of the above

Expert Explanatory Rationale

Correct Answer: none of the above

Question 4 of 5

A patient with Klinefelter syndrome can be seen as:

A. A male with 47 XXY

B. A female with 47 XXY

C. A female with 45 0X

D. A female with 59 XXY

Expert Explanatory Rationale

Correct Answer: A male with 47 XXY

Question 5 of 5

No fetus at all:

A. Complete molar

B. Partial molar

C. Triploidy

D. Normal pregnancy

Expert Explanatory Rationale

Correct Answer: Complete molar

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