The risk for miscarriage associated with amniocentesis is approximately

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Genetic Pediatric Questions

Question 1 of 5

The risk for miscarriage associated with amniocentesis is approximately

Correct Answer: C

Rationale: Amniocentesis carries a miscarriage risk of ~0.5-1% (1 in 100-200).

Question 2 of 5

Which one of the following causes a frame-shift mutation?

Correct Answer: C

Rationale: Deletion (if not in multiples of 3) shifts the reading frame; substitutions (A-E) do not.

Question 3 of 5

How many double stranded DNA molecules are in a somatic human cell that is in present G2 phase:

Correct Answer: C

Rationale: In G2 phase, after DNA replication (S phase), each of the 46 chromosomes consists of 2 sister chromatids (double-stranded DNA molecules). Thus, 92 double-stranded molecules exist. Answer 'C' (92) is correct. Rationale: Each chromosome’s chromatids are identical double helices, totaling 92 in a diploid human cell (2n=46).

Question 4 of 5

The study of chromosomes and cell division is called:

Correct Answer: A

Rationale: Cytogenetics (A) studies chromosomes and cell division. Rationale: Cytology is broader (cell biology), and pedigree is inheritance charting. Cytogenetics focuses on karyotypes and meiosis/mitosis.

Question 5 of 5

The most stable chromosome of the following is:

Correct Answer: C

Rationale: 45, XY, t(14,21) (C) is a balanced Robertsonian translocation, phenotypically normal. Rationale: 46, 0Y is inviable (no X), trisomy 14 is lethal, but t(14;21) carriers have normal gene content despite 45 chromosomes.

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