ATI RN
Pediatric Genetics Questions
Question 1 of 5
Which of the following statements is NOT associated with multifactorial disease inheritance?
Correct Answer: B
Rationale: Multifactorial diseases involve genetic and environmental factors (A) and include MS, diabetes, and cancer (C), but late-onset in one person doesn’t inherently increase sibling risk unless shared factors persist (B is not typical). Rationale: Multifactorial inheritance implies polygenic and environmental interplay, not age-specific sibling risk unless familial clustering is evident.
Question 2 of 5
A 7-year-old female complains of a brown-green discharge on her underwear. She has no fever or labial tenderness and denies sexual contact. Her mother states that for the past 4 months her daughter has been taking ballet classes and frequently sleeps in her leotards. The most likely diagnosis is
Correct Answer: A
Rationale: Brown-green discharge in a prepubertal girl with no fever or sexual contact, linked to tight clothing (leotards), suggests nonspecific vaginitis (A). Rationale: Poor hygiene from tight attire causes irritation and discharge; Gardnerella (B), gonorrhea (C), and Chlamydia (D) are less likely without sexual history or specific signs; Candida (E) typically causes white discharge.
Question 3 of 5
A 16-year-old non-sexually active female has had increasingly severe headaches and a breast discharge for 3 months. Physical examination reveals bitemporal hemianopsia. An important laboratory study in evaluating this patient is a serum level of
Correct Answer: C
Rationale: Headaches, galactorrhea, and bitemporal hemianopsia (pituitary pressure on optic chiasm) suggest prolactinoma; serum prolactin (C) is key. Rationale: Elevated prolactin causes discharge; estrogen (A), progesterone (B), cortisol (D), and LH (E) don’t explain all symptoms.
Question 4 of 5
Genetic diseases caused by change or (mutation) in DNA sequence. The frame shift mutation refers to
Correct Answer: D
Rationale: Frameshift mutation involves insertion/deletion of bases (D), shifting the reading frame. Rationale: Single base change (A) is a point mutation; amino acid change (B) is an outcome; chromosomal number (C) is aneuploidy, not frameshift.
Question 5 of 5
Chromosome analysis should be ordered for children with
Correct Answer: B
Rationale: Karyotyping is indicated for mental retardation (B), often linked to chromosomal anomalies (e.g., Down syndrome). Rationale: Metabolic (A) or epilepsy (C) typically need biochemical tests; conotruncal defects (D) suggest specific syndromes.