ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
The karyotype where euchromatic regions stain more darkly and the light regions are heretochromatin is:
Correct Answer: D
Rationale: R-banding is correct. Rationale: Euchromatin is gene-rich and active, staining dark in R-banding with reverse Giemsa or fluorescent dyes, while heterochromatin (repetitive, inactive) stains light.
Question 2 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 3 of 5
What is the possibility for a couple to have a child with Edwards syndrome if the fathers' homologous chromosomes 18 fail to disjoin during meiosis I?
Correct Answer: C
Rationale: 50% (C) is correct. Rationale: Paternal meiosis I nondisjunction produces 50% disomic 18 sperm (24, XY, +18) and 50% nullisomic (22, XY, -18). Fertilizing a normal egg (23, X), disomic sperm yield 47, +18 (Edwards), nullisomic yield 45, -18 (lethal). Thus, 50% viable zygotes are affected.
Question 4 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 5 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.