ATI RN
Pediatric Genetic Disorders Questions
Question 1 of 5
The most common chromosome abnormality in first trimester spontaneous miscarriages is:
Correct Answer: A
Rationale: Trisomy (e.g., trisomy 16) is the most common chromosomal cause of early miscarriage.
Question 2 of 5
Mutations that cause achondroplasia exert an effect, which can be classified as:
Correct Answer: B
Rationale: Achondroplasia (FGFR3 mutation) is a gain-of-function mutation, increasing receptor activity.
Question 3 of 5
The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation?
Correct Answer: A
Rationale: Low maternal AFP is associated with Down syndrome; high AFP occurs with NTDs, exomphalos, or twins.
Question 4 of 5
The figure below represents the pedigree of a family with neurofibromatosis type 1 with the arrow indicating the proband. This pedigree shows a:
Correct Answer: A
Rationale: NF1 is autosomal dominant. Without the figure, typical AD inheritance is assumed (affected in each generation).
Question 5 of 5
This chromosome is:
Correct Answer: C
Rationale: Without a figure, 'Submetacentric' (C) is accepted as per the document. Rationale: Chromosomes are classified by centromere position. Metacentric has a central centromere, acrocentric has it near one end with a short p-arm, submetacentric is off-center, and telocentric has it at the end. 'Interphase chromosome' isn’t a structural type. Submetacentric is plausible for many human chromosomes (e.g., chromosome 1), making 'C' reasonable without context.