ATI RN
Pediatric Genetics Questions
Question 1 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 2 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 3 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 4 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 5 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.