MCQ Quiz: Chromosomal Abnormalities

Chromosomal abnormalities, which are large-scale changes to the structure or number of chromosomes, are the underlying cause of numerous genetic syndromes and a fundamental driver of cancer. Understanding how these changes arise and their pathological consequences is essential for grasping the genetic basis of human disease. This quiz for PharmD students will test your knowledge of the types of chromosomal abnormalities, the mechanisms that cause them, and their profound impact on health, particularly in the context of oncology.


1. A “karyotype” is a visual representation of an individual’s:

  • Complete set of DNA sequences.
  • Complete set of expressed genes.
  • Organized profile of their chromosomes.
  • Ribosomal structure.

Answer: Organized profile of their chromosomes.


2. A cell that has an abnormal number of chromosomes, such as 45 or 47 instead of the usual 46, is described as having:

  • Aneuploidy
  • Polyploidy
  • A balanced translocation
  • An inversion

Answer: Aneuploidy


3. “Trisomy” is a type of aneuploidy characterized by the presence of:

  • A single copy of a chromosome.
  • Three copies of a particular chromosome.
  • A complete extra set of chromosomes.
  • A missing piece of a chromosome.

Answer: Three copies of a particular chromosome.


4. Down syndrome is the most common autosomal trisomy and is caused by an extra copy of which chromosome?

  • Chromosome 18
  • Chromosome 13
  • Chromosome 21
  • The X chromosome

Answer: Chromosome 21


5. “Nondisjunction,” the failure of chromosomes to separate properly during meiosis, is the most common cause of:

  • Aneuploidy.
  • A stable genome.
  • The activation of DNA repair.
  • Gene amplification.

Answer: Aneuploidy.


6. Turner syndrome (45,X) is an example of ________, where an individual is missing a sex chromosome.

  • Trisomy
  • Polyploidy
  • Monosomy
  • A translocation

Answer: Monosomy


7. Klinefelter syndrome is a sex chromosome aneuploidy characterized by which karyotype?

  • 45,X
  • 47,XY,+21
  • 47,XXY
  • 46,XY

Answer: 47,XXY


8. Which of the following is considered a “structural” chromosomal abnormality?

  • Trisomy
  • Monosomy
  • Polyploidy
  • Translocation

Answer: Translocation


9. A “deletion” is a structural abnormality where:

  • A segment of a chromosome is repeated.
  • A segment of a chromosome is missing.
  • A segment of a chromosome is flipped in orientation.
  • A segment of a chromosome moves to a new location.

Answer: A segment of a chromosome is missing.


10. A “reciprocal translocation” occurs when:

  • A piece of one chromosome breaks off and attaches to another, different chromosome.
  • Two different chromosomes exchange segments.
  • A single chromosome breaks and reattaches in the wrong orientation.
  • A segment of DNA moves to a new location on the same chromosome.

Answer: Two different chromosomes exchange segments.


11. The “Philadelphia chromosome” is a famous example of a specific translocation that is a hallmark of which cancer?

  • Acute Lymphoblastic Leukemia (ALL)
  • Chronic Myeloid Leukemia (CML)
  • Non-Hodgkin Lymphoma
  • Multiple Myeloma

Answer: Chronic Myeloid Leukemia (CML).


12. The translocation that creates the Philadelphia chromosome involves which two chromosomes?

  • 8 and 14
  • 14 and 18
  • 9 and 22
  • X and Y

Answer: 9 and 22


13. The Philadelphia chromosome creates the “BCR-ABL” fusion gene. This new gene is a(n):

  • Tumor suppressor gene.
  • DNA repair gene.
  • Oncogene.
  • Housekeeping gene.

Answer: Oncogene.


14. A chromosomal “inversion” is a rearrangement in which:

  • A segment of a chromosome is lost.
  • A segment of a chromosome is duplicated.
  • A segment of a chromosome is reversed end to end.
  • A segment of a chromosome moves to a different chromosome.

Answer: A segment of a chromosome is reversed end to end.


15. A “ring chromosome” is a structural abnormality that can form when:

  • A chromosome undergoes two breaks, and the ends of the chromosome fuse together.
  • Three copies of a chromosome are present.
  • The telomeres become too long.
  • A translocation occurs.

Answer: A chromosome undergoes two breaks, and the ends of the chromosome fuse together.


16. The inactivation of a “tumor suppressor gene” can be caused by:

  • A point mutation.
  • A deletion of the gene’s locus on a chromosome.
  • Epigenetic silencing.
  • All of the above.

Answer: All of the above.


17. “Gene amplification,” a common event in cancer, can be seen at the chromosomal level as:

  • A deletion.
  • An inversion.
  • A homogeneously staining region (HSR) or double minutes, representing many extra copies of an oncogene.
  • A balanced translocation.

Answer: A homogeneously staining region (HSR) or double minutes, representing many extra copies of an oncogene.


18. The “molecular biology technique” used to visualize and analyze a full set of chromosomes is:

  • PCR
  • Western blotting
  • Karyotyping.
  • DNA sequencing

Answer: Karyotyping.


19. A more modern technique like “fluorescence in situ hybridization” (FISH) can be used to:

  • Detect the presence or absence of a specific DNA sequence or a chromosomal translocation.
  • Measure the level of a protein.
  • Sequence an entire gene.
  • Amplify DNA.

Answer: Detect the presence or absence of a specific DNA sequence or a chromosomal translocation.


20. The “forging ahead” mindset in pharmacy means embracing personalized medicine, which involves understanding how _________ can guide cancer therapy.

  • A patient’s diet.
  • A tumor’s specific chromosomal abnormalities.
  • The patient’s age.
  • The patient’s insurance status.

Answer: A tumor’s specific chromosomal abnormalities.


21. A “business plan” for a new cancer diagnostic company might focus on developing a novel technology to:

  • Detect chromosomal abnormalities from a blood sample (liquid biopsy).
  • Dispense chemotherapy.
  • Manage a patient’s side effects.
  • Provide nutritional counseling.

Answer: Detect chromosomal abnormalities from a blood sample (liquid biopsy).


22. A pharmacist’s “leadership” is shown when they advocate for:

  • Patient access to genetic testing that can identify chromosomal abnormalities relevant to their treatment.
  • The use of fewer genetic tests.
  • The discontinuation of all targeted therapies.
  • A return to traditional chemotherapy for all cancers.

Answer: Patient access to genetic testing that can identify chromosomal abnormalities relevant to their treatment.


23. The “regulation” of a new diagnostic test that detects chromosomal abnormalities is the responsibility of the:

  • DEA
  • FDA
  • CMS
  • EPA

Answer: The FDA


24. The “service” of genetic counseling is critical when a chromosomal abnormality is detected in order to:

  • Explain the clinical implications to the patient and their family.
  • Prescribe the appropriate treatment.
  • Administer the genetic test.
  • Bill for the procedure.

Answer: Explain the clinical implications to the patient and their family.


25. A “policy” decision to include prenatal screening for common trisomies in routine care is a matter of:

  • Public health and reproductive health policy.
  • Financial policy only.
  • Transportation policy.
  • Environmental policy.

Answer: Public health and reproductive health policy.


26. A pharmacist’s knowledge of “DNA repair mechanisms” is relevant because a failure in these pathways can lead to:

  • An increase in mutations and chromosomal instability.
  • A perfectly stable genome.
  • The prevention of all cancer.
  • The creation of new chromosomes.

Answer: An increase in mutations and chromosomal instability.


27. The field of “epigenetics” can be linked to chromosome structure, as epigenetic marks contribute to the formation of:

  • Euchromatin (open and active).
  • Heterochromatin (condensed and inactive).
  • Both A and B.
  • Neither A nor B.

Answer: Both A and B.


28. A key difference between a “gene mutation” and a “chromosomal abnormality” is:

  • The scale; gene mutations are changes in the DNA sequence of a single gene, while chromosomal abnormalities are large-scale changes affecting many genes.
  • There is no difference.
  • Gene mutations are not heritable.
  • Chromosomal abnormalities do not affect health.

Answer: The scale; gene mutations are changes in the DNA sequence of a single gene, while chromosomal abnormalities are large-scale changes affecting many genes.


29. The “chemotherapeutic” imatinib is a targeted therapy that is only effective in cancers driven by a specific:

  • Deletion.
  • Inversion.
  • Chromosomal translocation (the Philadelphia chromosome).
  • Duplication.

Answer: Chromosomal translocation (the Philadelphia chromosome).


30. The ultimate reason pharmacists study chromosomal abnormalities is that they are:

  • A fundamental cause of many genetic diseases and a key driver of cancer, with direct implications for diagnosis and pharmacotherapy.
  • An interesting but clinically minor topic.
  • Only relevant to geneticists.
  • The cause of all infectious diseases.

Answer: A fundamental cause of many genetic diseases and a key driver of cancer, with direct implications for diagnosis and pharmacotherapy.


31. A “Robertsonian translocation” is a specific type of translocation that involves:

  • Two acrocentric chromosomes fusing near the centromere.
  • The exchange of segments between chromosome 9 and 22.
  • A segment of a chromosome being inverted.
  • The deletion of a telomere.

Answer: Two acrocentric chromosomes fusing near the centromere.


32. The “enzymes of DNA metabolism” like ligases and nucleases are involved in the cellular processes that can:

  • Cause chromosomal breaks.
  • Repair chromosomal breaks.
  • Both cause and repair chromosomal breaks.
  • They are not involved in chromosome structure.

Answer: Both cause and repair chromosomal breaks.


33. The “special recombination” pathway of non-homologous end joining (NHEJ) can sometimes incorrectly join broken chromosome ends, leading to a:

  • Translocation.
  • Deletion.
  • Inversion.
  • All of the above are possible outcomes.

Answer: All of the above are possible outcomes.


34. The “molecular biology technique” of “chromosome painting” uses fluorescent probes to:

  • Identify specific chromosomes and visualize rearrangements like translocations.
  • Sequence the DNA of a chromosome.
  • Amplify a specific gene.
  • Separate chromosomes by size.

Answer: Identify specific chromosomes and visualize rearrangements like translocations.


35. A “health disparity” could arise if a patient from an underserved population is not offered:

  • Standard chemotherapy.
  • Cytogenetic testing to identify a chromosomal abnormality that could guide targeted therapy.
  • A routine blood test.
  • An antiemetic.

Answer: Cytogenetic testing to identify a chromosomal abnormality that could guide targeted therapy.


36. A “human resources” department in a cancer genetics lab would need to recruit cytogenetic technologists with expertise in:

  • Karyotyping and FISH analysis.
  • Marketing.
  • Finance.
  • Only human relations.

Answer: Karyotyping and FISH analysis.


37. The “financials” of cancer care are heavily impacted by diagnostics. A test to detect a chromosomal abnormality is a key part of:

  • The initial workup and cost of care for many cancers.
  • The final bill only.
  • A wellness visit.
  • A routine check-up.

Answer: The initial workup and cost of care for many cancers.


38. The “advocacy” role of a pharmacist could involve:

  • Advocating for insurance coverage of a genetic test that can detect a clinically important chromosomal abnormality.
  • Insisting all patients receive the same chemotherapy.
  • Refusing to counsel a patient on a complex medication.
  • Focusing only on the pharmacy’s profits.

Answer: Advocating for insurance coverage of a genetic test that can detect a clinically important chromosomal abnormality.


39. A “negotiation” with a payer for an expensive targeted drug would be strongest if it is supported by evidence that the drug is effective in patients with a specific:

  • Chromosomal abnormality.
  • Blood type.
  • Age.
  • Gender.

Answer: Chromosomal abnormality.


40. In which “practice setting” is a pharmacist most likely to work directly with cytogenetic reports?

  • A community pharmacy.
  • A specialized oncology or genetics service in a hospital.
  • A mail-order pharmacy.
  • A supermarket pharmacy.

Answer: A specialized oncology or genetics service in a hospital.


41. The loss of a chromosome that carries a key ________ can be a “hit” that contributes to cancer.

  • Oncogene
  • Tumor suppressor gene
  • Housekeeping gene
  • Metabolic enzyme

Answer: Tumor suppressor gene


42. Burkitt’s lymphoma is often associated with a translocation that places the MYC oncogene next to a strong:

  • Immunoglobulin gene promoter, leading to its overexpression.
  • Tumor suppressor gene.
  • Centromere.
  • Telomere.

Answer: Immunoglobulin gene promoter, leading to its overexpression.


43. A “mosaic” individual is one who has:

  • A single, uniform set of chromosomes in all their cells.
  • Two or more cell populations with different chromosomal makeups.
  • A perfectly normal karyotype.
  • A single structural abnormality.

Answer: Two or more cell populations with different chromosomal makeups.


44. “Polyploidy” refers to a state of having:

  • One extra chromosome.
  • One missing chromosome.
  • More than two complete sets of chromosomes (e.g., triploidy, tetraploidy).
  • A single, large ring chromosome.

Answer: More than two complete sets of chromosomes (e.g., triploidy, tetraploidy).


45. The “cloning” of a specific gene located on an abnormal chromosome allows researchers to:

  • Study its function and role in the disease process.
  • It is not possible to clone genes from abnormal chromosomes.
  • Create a new human being.
  • Directly cure the chromosomal abnormality.

Answer: Study its function and role in the disease process.


46. An “Electronic Health Record” (EHR) that is “forging ahead” would have a dedicated, structured field for a patient’s:

  • Known chromosomal abnormalities.
  • Favorite color.
  • Type of car they drive.
  • Preferred brand of coffee.

Answer: Known chromosomal abnormalities.


47. A “Clinical Decision Support” system could be designed to:

  • Alert a physician to the need for a specific genetic test based on a patient’s diagnosis, which may be caused by a chromosomal abnormality.
  • Dispense a medication.
  • Bill for a hospital stay.
  • It cannot use this type of data.

Answer: Alert a physician to the need for a specific genetic test based on a patient’s diagnosis, which may be caused by a chromosomal abnormality.


48. An “RNA tumor virus” can contribute to cancer by causing “insertional mutagenesis,” which can sometimes lead to:

  • The disruption of a gene.
  • The activation of a proto-oncogene.
  • A chromosomal break.
  • All of the above are possibilities.

Answer: All of the above are possibilities.


49. A key “leadership” challenge in a cytogenetics lab is:

  • Managing the complex workflow and ensuring the quality and accuracy of the results.
  • Marketing the lab’s services.
  • Hiring new administrative staff.
  • Designing the lab’s logo.

Answer: Managing the complex workflow and ensuring the quality and accuracy of the results.


50. The ultimate principle of why pharmacists study chromosomal abnormalities is that they are:

  • A core mechanism of human disease that directly impacts the selection and management of pharmacotherapy, especially in oncology.
  • An interesting but clinically minor topic.
  • The cause of all disease.
  • The target for all medications.

Answer: A core mechanism of human disease that directly impacts the selection and management of pharmacotherapy, especially in oncology.

Leave a Comment