Karyotyping MCQ Quiz | Genetics

Welcome to the Karyotyping quiz, specifically designed for MBBS students. This quiz will test your understanding of fundamental and clinical concepts in cytogenetics. You will face 25 multiple-choice questions covering topics such as chromosome structure, banding techniques, standard nomenclature, and the identification of numerical and structural abnormalities like aneuploidies, translocations, and deletions. This assessment is an excellent tool for self-evaluation and revision for your genetics module and professional exams. After completing the quiz, you can submit your answers to see your score and review the correct responses. For your convenience, an option to download all questions with their correct answers in a PDF format is also available for offline study. Good luck!

1. Which banding technique is most commonly used in clinical cytogenetics and utilizes Giemsa stain after trypsin treatment?

2. The karyotype 47,XX,+21 is indicative of which genetic disorder?

3. In standard chromosome nomenclature, what does the letter ‘p’ represent?

4. A chromosome where the centromere is located very close to one end, resulting in one very long and one very short arm, is termed:

5. Which chemical is used to arrest cells in metaphase for karyotype analysis?

6. Cri-du-chat syndrome is caused by a deletion on the short arm of which chromosome?

7. The Philadelphia chromosome, associated with Chronic Myeloid Leukemia (CML), is a result of:

8. What is the purpose of treating cells with a hypotonic solution (e.g., KCl) during karyotype preparation?

9. A karyotype of 45,X is characteristic of which syndrome?

10. Robertsonian translocations typically occur between which types of chromosomes?

11. A key advantage of Fluorescence In Situ Hybridization (FISH) over conventional karyotyping is its ability to:

12. A karyotype showing 69,XXX represents:

13. The term ‘mosaicism’ in cytogenetics refers to:

14. Patau syndrome is caused by a trisomy of which chromosome?

15. An inversion that includes the centromere is known as:

16. Which of the following is a common indication for prenatal karyotyping?

17. A major limitation of conventional G-banded karyotyping is its inability to reliably detect:

18. The notation 47,XXY is associated with:

19. What does the term ‘aneuploidy’ describe?

20. High-resolution banding is achieved by synchronizing cell cultures and analyzing chromosomes at which stage?

21. Which sample is most commonly used for postnatal karyotype analysis?

22. The notation ‘del(5)(p15)’ signifies:

23. Edwards syndrome is associated with a trisomy of which chromosome?

24. Quinacrine mustard staining followed by fluorescence microscopy results in which type of banding?

25. Phytohemagglutinin (PHA) is added to peripheral blood cultures for karyotyping in order to: