DNA microarrays and human genome data are being used to diagnose and manage cancer:

Questions 44

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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.

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