ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
Chronic myeloid leukemia is caused by?
Correct Answer: A
Rationale: CML is caused by t(9;22) (Philadelphia chromosome, A). Rationale: BCR-ABL1 fusion drives uncontrolled myeloid proliferation. Trisomy 18 and 13 cause Edwards and Patau syndromes, not CML.
Question 2 of 5
If an embryo with 46 chromosomes develops from an egg that lost its nucleus, it will most probably become:
Correct Answer: B
Rationale: Complete mole (B) results. Rationale: Egg without nucleus (0 chromosomes) fertilized by sperm (23, X or Y) that duplicates (46, XX or YY, all paternal) forms a complete mole. No fetus, just placental tissue. Partial mole needs maternal DNA.
Question 3 of 5
If a GAMETE chromosomes are 16, what is the number of chromatids before anaphase 1?
Correct Answer: D
Rationale: If a gamete has 16 chromosomes (n=16), the diploid cell (2n=32) before meiosis I has 32 chromosomes, each with 2 chromatids post-S phase, totaling 64 chromatids. 'D' is correct. Rationale: Before anaphase I, homologous pairs align; each chromosome has duplicated, so 32 x 2 = 64 chromatids.
Question 4 of 5
Which of the following has rDNA?
Correct Answer: B
Rationale: Chromosome 15 (B) carries ribosomal DNA (rDNA) on its p-arm. Rationale: rDNA, encoding rRNA, is in NORs of acrocentric chromosomes (13, 14, 15, 21, 22); 15 is a known carrier, unlike 16, 9, or 5.
Question 5 of 5
Which of the following results in net gain genetic material?
Correct Answer: B
Rationale: Duplication (B) adds genetic material. Rationale: Deletion removes, translocations rearrange (no net gain), while duplication increases gene copies, potentially causing phenotypes like Charcot-Marie-Tooth.