ATI RN
Genetic Disorders in Pediatrics Questions
Question 1 of 5
Maternal exposure to DES places the female offspring at increased risk for
Correct Answer: B
Rationale: DES exposure in utero increases risk of clear cell adenocarcinoma of the vagina (B). Rationale: DES, a synthetic estrogen, causes vaginal epithelial changes; ovarian cancer (A) and other conditions (C, D) are not directly linked.
Question 2 of 5
A 2-year-old girl with history of delayed speech, lonely play, and special hand movement (hand washing posture), the parents are healthy relative couple. The genetic cause of this disorder is MOST likely due to
Correct Answer: C
Rationale: Rett syndrome (hand-washing, regression) is often a de novo mutation (C) in MECP2 (XLD). Rationale: Healthy parents and consanguinity reduce carrier likelihood (A, B); not chromosomal (D).
Question 3 of 5
Fragile X syndrome (FRAX) is the most common cause of inherited intellectual disability. The individual who manifest the disease may have the number of trinucleotide repeat of CGG in the region Xq 27 of
Correct Answer: D
Rationale: Fragile X full mutation is >200 CGG repeat. Rationale: Normal is <45 (A), premutation 55–200 (B, C, D); >200 causes methylation and intellectual disability.
Question 4 of 5
Of the following, the study that is MOST useful in diagnosis of an aneuploidy is
Correct Answer: A
Rationale: Karyotyping (A) directly visualizes aneuploidy (e.g., trisomy 21). Rationale: FISH (B) confirms specific regions; microarray (C) detects microdeletions, not whole chromosome changes.
Question 5 of 5
A young parents with Down syndrome baby with Robertsonian translocation. Both did a chromosomal karyotype study. Of the following the MOST likely result is
Correct Answer: B
Rationale: Maternal Robertsonian translocation (e.g., t(14;21)) is more common in DS (B). Rationale: Maternal age and translocation risk skew higher; one parent is typically the carrier.