ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
DNA microarrays and human genome data are being used to diagnose and manage cancer:
Correct Answer: A
Rationale: True. Microarrays and genomic data help identify cancer mutations and guide treatment.
Question 2 of 5
The characteristic indicated by the blackened figures is probably:
Correct Answer: A
Rationale: Without the pedigree, dominant is assumed if blackened figures appear in every generation; recessive if skipping generations.
Question 3 of 5
Consanguinity shows a strong association with which pattern of inheritance?
Correct Answer: B
Rationale: Consanguinity increases the risk of autosomal recessive disorders due to shared rare alleles.
Question 4 of 5
Large triplet repeat expansions can be detected by:
Correct Answer: C
Rationale: Southern blotting is used for large repeat expansions (e.g., Huntington’s), as PCR may fail with very large repeats.
Question 5 of 5
The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?
Correct Answer: D
Rationale: DiGeorge syndrome (22q11.2 deletion) affects chromosome 22.