ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
cells are commonly used today in research laboratories. They are from a cervical cancer patient who died in 1951:
Correct Answer: A
Rationale: HeLa cells, from Henrietta Lacks’ cervical cancer, are widely used in research.
Question 2 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 3 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 4 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.
Question 5 of 5
Marfan syndrome is caused by mutations in the gene which encodes
Correct Answer: D
Rationale: Marfan syndrome results from FBN1 mutations affecting fibrillin, a connective tissue protein.