ATI RN
Pediatric Genetics Questions
Question 1 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 2 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.
Question 3 of 5
Premarital screening for variable genetic disorders is mainly depending on ethnic group from which the couple is originated. People whose ancestors originated in the Mediterranean basin may be screened for
Correct Answer: D
Rationale: Thalassemia (D) is prevalent in Mediterranean populations. Rationale: Beta-thalassemia is common in this region; Gaucher (A) and dysautonomia (C) are Ashkenazi-linked.
Question 4 of 5
A young lady had aborted recently, part of consoling, you told her that there is possibility of chromosomal anomalies in an aborted fetus, that is actually true and it is equal to be about
Correct Answer: C
Rationale: ~50% of spontaneous abortions have chromosomal anomalies (C). Rationale: Trisomies (e.g., 16) are common; not all abortions are genetic (50% is approximate).
Question 5 of 5
A fullterm baby with multiple congenital anomalies, his blood film reported nuclear projections in neutrophils. Of the following the MOST likely diagnosis is
Correct Answer: A
Rationale: Nuclear projections (e.g., drumsticks) in DS neutrophils (A) are a feature. Rationale: Other syndromes (B-E) lack this specific hematologic sign.