ATI RN
Pediatric Genetics Questions
Question 1 of 5
A couple are both tested, the father is affected with cystic fibrosis and the mother is a carrier of cystic fibrosis gene. What is the chance that they will have a HOMOZYGOUS NORMAL MALE?
Correct Answer: C
Rationale: Father (affected, ff) contributes f. Mother (carrier, Ff) contributes F or f (1/2 each). Child genotypes: Ff (carrier) or ff (affected). No FF (homozygous normal) is possible, so chance = 0. Sex (male) doesn’t change this.
Question 2 of 5
A variant that results in genetic mosaicism is:
Correct Answer: B
Rationale: Mosaicism arises from somatic variants (post-zygotic mutations), not germline (present in all cells) or other types.
Question 3 of 5
Autosomes:
Correct Answer: A
Rationale: Autosomes are the non-sex chromosomes (1-22 in humans), distinguishing them from sex chromosomes (X and Y).
Question 4 of 5
Which of the following karyotypes is an example of aneuploidy?
Correct Answer: C
Rationale: Aneuploidy is an abnormal number of chromosomes. 69,XXX (triploidy) is aneuploid; 46,XX is normal diploid, 23,X is a gamete, 92,XXXX is tetraploid, and 90,XX is not viable.
Question 5 of 5
John and Jesica are planning a family, but since each has a brother who has sickle cell anemia, they are concerned that their children may develop sickle-cell disease. Neither John, Jane nor their respective parents have the disease. They consult a genetic counselor who tells them:
Correct Answer: D
Rationale: Sickle cell anemia is autosomal recessive. Both John and Jesica are likely carriers (1/2 chance each, given affected siblings and unaffected parents). Risk of an affected child is 1/4 if both are carriers, but testing is needed to confirm carrier status.