ATI RN
Pediatric Genetic Disorders Questions
Question 1 of 5
Marked microsatellite instability is a feature of:
Correct Answer: B
Rationale: HNPCC (Lynch syndrome) features microsatellite instability due to DNA mismatch repair defects.
Question 2 of 5
Autozygosity mapping is used to map disorders that show which pattern of inheritance?
Correct Answer: B
Rationale: Autozygosity mapping identifies homozygous regions in consanguineous families, typical for autosomal recessive disorders.
Question 3 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 4 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 5 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).