ATI RN
Pediatric Genetics Questions
Question 1 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 2 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 3 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.
Question 4 of 5
Patients with Turner syndrome should undergo careful analysis of their chromosomes for Y chromosome material because they may
Correct Answer: D
Rationale: Turner syndrome (45,X) patients are at risk of gonadoblastoma if Y chromosome material is present, as it increases the likelihood of gonadal tumors. Masculinization is rare and not the primary concern. They typically have short stature, not tall growth, and are usually infertile, making pregnancy unlikely.
Question 5 of 5
Trinucleotide repeats are implicated in the etiology of all of the following EXCEPT
Correct Answer: B
Rationale: Trinucleotide repeats cause fragile X (CGG), Friedreich ataxia (GAA), spinocerebellar ataxia type I (CAG), and myotonic dystrophy (CTG). Neurofibromatosis is caused by mutations in NF1 or NF2 genes, not trinucleotide repeats.