ATI RN
Genetic Disorders in Pediatrics Questions
Question 1 of 5
What are the genotypes of the parents?
Correct Answer: B
Rationale: Without the pedigree, heterozygous (Aa x Aa) is common for dominant traits with affected and unaffected offspring.
Question 2 of 5
The normal human chromosome diploid number is:
Correct Answer: C
Rationale: Humans have 46 chromosomes in diploid cells (2n=46).
Question 3 of 5
Which of the following is not a chromosome instability syndrome?
Correct Answer: A
Rationale: Klinefelter (47,XXY) is an aneuploidy, not a chromosome instability syndrome (e.g., DNA repair defects).
Question 4 of 5
The most common cystic fibrosis mutation consists of:
Correct Answer: A
Rationale: The most common CF mutation is ΔF508, a 3-base-pair deletion in CFTR.
Question 5 of 5
If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals
Correct Answer: D
Rationale: If both parents are homozygous recessive (aa x aa), all offspring will be aa (100% affected).