cytogenetics technologist Interview Questions and Answers

1. What is cytogenetics?

   • Answer: Cytogenetics is the study of chromosomes and their relationship to heredity and disease. It involves the analysis of chromosomes' structure, number, and function.

2. Describe the different types of chromosomal abnormalities.

   • Answer: Chromosomal abnormalities include numerical abnormalities (aneuploidy, such as trisomy 21 or monosomy X) and structural abnormalities (deletions, duplications, inversions, translocations). These can be inherited or occur spontaneously.

3. Explain the process of karyotyping.

   • Answer: Karyotyping involves culturing cells, arresting them in metaphase, staining the chromosomes, and arranging them according to size and banding patterns to create a karyogram, revealing chromosomal abnormalities.

4. What are the different types of chromosome banding techniques?

   • Answer: Common banding techniques include G-banding (using trypsin and Giemsa stain), Q-banding (using quinacrine mustard), R-banding (reverse banding), and C-banding (staining centromeres).

5. What is FISH and how is it used in cytogenetics?

   • Answer: Fluorescence in situ hybridization (FISH) uses fluorescently labeled DNA probes to detect specific DNA sequences on chromosomes. It's used to identify specific chromosomal abnormalities, including microdeletions and translocations, which may be missed by karyotyping.

6. Explain the principle of comparative genomic hybridization (CGH).

   • Answer: Comparative genomic hybridization (CGH) compares the DNA content of a test sample to a reference sample using fluorescently labeled DNA probes. It identifies copy number variations (CNVs) – gains or losses of DNA segments.

7. What is array comparative genomic hybridization (aCGH)?

   • Answer: aCGH is a higher-resolution technique than CGH, using microarrays with thousands of DNA probes to detect smaller CNVs than traditional CGH.

8. What is the role of a cytogenetics technologist in prenatal diagnosis?

   • Answer: Cytogenetics technologists analyze fetal cells obtained through amniocentesis or chorionic villus sampling (CVS) to detect chromosomal abnormalities that may cause birth defects.

9. How does a cytogenetics technologist contribute to cancer diagnosis?

   • Answer: They analyze tumor cells to identify chromosomal abnormalities, such as translocations or aneuploidy, which are associated with various cancers, aiding in diagnosis, prognosis, and treatment planning.

10. What are the safety precautions involved in handling biological samples in a cytogenetics lab?

    • Answer: Strict adherence to biosafety protocols, including the use of personal protective equipment (PPE) like gloves, lab coats, and eye protection, proper handling and disposal of biohazardous waste, and following universal precautions are crucial.

11. Explain the importance of quality control in cytogenetics.

    • Answer: Quality control is essential to ensure accurate and reliable results. It involves using positive and negative controls, regular calibration of equipment, and participation in proficiency testing programs.

12. Describe your experience with different types of microscopes used in cytogenetics.

    • Answer: [Candidate should detail experience with inverted microscopes, fluorescence microscopes, and potentially others, explaining their use in specific cytogenetic techniques.]

13. How do you interpret a karyotype? Give an example.

    • Answer: [Candidate should explain how to interpret the notation, e.g., 47,XX,+21 (Trisomy 21), and describe the process of identifying numerical and structural abnormalities.]

14. What is your experience with data analysis software used in cytogenetics?

    • Answer: [Candidate should list specific software and describe their experience with data analysis and interpretation. Examples include karyotyping software, FISH analysis software, and CGH/aCGH analysis software.]

15. How do you ensure the accuracy and reliability of your results?

    • Answer: [Candidate should describe their meticulous approach, including double-checking results, following standard operating procedures, using controls, and participating in quality assurance programs.]

16. Describe a challenging case you encountered and how you overcame it.

    • Answer: [Candidate should describe a specific challenging case, detailing the problem, their approach, and the solution. This showcases problem-solving skills and experience.]

17. How do you stay updated with the latest advancements in cytogenetics?

    • Answer: [Candidate should mention professional organizations, journals, conferences, and online resources they use to stay current.]

18. What are your strengths and weaknesses as a cytogenetics technologist?

    • Answer: [Candidate should honestly assess their strengths and weaknesses, providing specific examples. Weaknesses should be framed with a plan for improvement.]

19. Why are you interested in this position?

    • Answer: [Candidate should articulate their interest in the specific position, highlighting relevant skills and experience, and expressing enthusiasm for the role and the organization.]

20. What is a Robertsonian translocation?

    • Answer: A Robertsonian translocation is a specific type of chromosomal translocation involving the fusion of two acrocentric chromosomes (chromosomes with the centromere near one end) at their centromeres.

21. Explain the difference between a reciprocal and a Robertsonian translocation.

    • Answer: A reciprocal translocation involves the exchange of segments between two non-homologous chromosomes, while a Robertsonian translocation involves the fusion of two acrocentric chromosomes.

22. What is mosaicism?

    • Answer: Mosaicism refers to the presence of two or more genetically distinct cell populations within an individual, arising from a post-zygotic mutation.

23. How is a ring chromosome formed?

    • Answer: A ring chromosome is formed when both ends of a chromosome break off and the broken ends fuse together, forming a ring structure.

24. What is an isochromosome?

    • Answer: An isochromosome is a chromosome with two identical arms, resulting from a mistake during meiosis where the chromosome splits along the wrong axis.

25. Describe the process of chromosome preparation for karyotyping.

    • Answer: This involves cell culturing, synchronization using colcemid, hypotonic treatment, fixation, and chromosome spreading onto slides.

26. What are the limitations of karyotyping?

    • Answer: Karyotyping may miss submicroscopic chromosomal abnormalities, requires actively dividing cells, and can be time-consuming.

27. What is a metacentric chromosome?

    • Answer: A metacentric chromosome has a centrally located centromere, resulting in two arms of approximately equal length.

28. What is an acrocentric chromosome?

    • Answer: An acrocentric chromosome has a centromere located very near one end, resulting in one long and one very short arm.

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