ATI RN
Pediatric Genetics Questions
Question 1 of 5
The main treatment for PKU includes:
Correct Answer: B
Rationale: PKU treatment is a low-protein diet (B). Rationale: Phenylketonuria (PAH gene) prevents phenylalanine metabolism; restricting protein (phenylalanine source) prevents toxic buildup, unlike carbohydrate restriction.
Question 2 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 3 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 4 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.
Question 5 of 5
An affected mother with hypertrophic pyloric stenosis (HPS), became pregnant. She came to you to explain the possibility of future affection of her kids. Of the following, the MOST likely true explanation is
Correct Answer: D
Rationale: HPS is multifactorial, 5x more common in males; maternal history increases risk: sons ~20%, daughters ~7%. Rationale: General risk (A) is lower; maternal effect skews higher.