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Cytogenetics
Contributed by: Stokes
  • 1. Cytogenetics is a branch of genetics that deals with the study of chromosomes and their role in inheritance. It involves analyzing the structure, function, and numerical abnormalities of chromosomes to understand genetic diseases, birth defects, and other conditions. By studying the karyotype, or the complete set of chromosomes in an individual, cytogeneticists can identify chromosomal disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. Techniques used in cytogenetics include karyotyping, fluorescent in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Cytogenetics plays a crucial role in prenatal screening, cancer diagnosis, and research on genetic disorders.

    Which laboratory technique is commonly used in cytogenetics?
A) PCR
B) Western blot
C) Karyotyping
D) ELISA
  • 2. What does a FISH analysis in cytogenetics involve?
A) Analyzing mutations in viruses
B) Studying bacterial growth patterns
C) Using fluorescent probes to detect specific DNA sequences on chromosomes
D) Determining protein expression levels
  • 3. Which condition is caused by aneuploidy of the sex chromosomes?
A) Klinefelter syndrome
B) Down syndrome
C) Trisomy 18
D) Turner syndrome
  • 4. What is the purpose of a G-banding stain in cytogenetics?
A) To identify genetic mutations
B) To visualize and analyze chromosome structure
C) To detect viral DNA
D) To study protein interactions
  • 5. Which of the following disorders is commonly diagnosed through cytogenetic testing?
A) Type 2 diabetes
B) Asthma
C) Migraines
D) Down syndrome
  • 6. What do telomeres represent in chromosome structure?
A) Regions of active gene expression
B) Protective caps at the ends of chromosomes
C) Markers for genetic disorders
D) Genetic material responsible for eye color
  • 7. Which type of aneuploidy is associated with an extra copy of the X chromosome in males?
A) Klinefelter syndrome
B) Trisomy 18
C) Down syndrome
D) Turner syndrome
  • 8. Why are metaphase chromosomes commonly used for karyotyping?
A) Metaphase is the only phase suitable for chromosome collection
B) Chromosomes are inactive during metaphase
C) Metaphase is the phase when new chromosomes are formed
D) Chromosomes are condensed and easy to visualize
  • 9. How does cytogenetic analysis contribute to cancer research?
A) Identifying chromosomal abnormalities associated with specific types of cancer
B) Determining blood cell count
C) Studying bacterial growth patterns
D) Detecting protein expression levels
  • 10. What is the function of a centromere on a chromosome?
A) It contains genes responsible for eye color
B) It is a region that mediates chromosome segregation during cell division
C) It regulates gene expression
D) It protects the ends of chromosomes
  • 11. In cytogenetics, what is the role of a probe?
A) To bind to specific DNA sequences and identify chromosomal abnormalities
B) To induce genetic mutations
C) To alter protein structures
D) To regulate gene expression
  • 12. Which technique is used to visualize banding patterns on chromosomes?
A) Immunofluorescence
B) X-ray crystallography
C) Flow cytometry
D) G-banding
  • 13. How does mosaicism differ from polyploidy?
A) Polyploidy affects only sex chromosomes
B) Polyploidy results in abnormal chromosomal numbers
C) Mosaicism is a type of gene mutation
D) Mosaicism involves cells with different genetic compositions in the same individual
  • 14. What can a structural chromosomal abnormality result from?
A) Deletions, duplications, inversions, or translocations
B) Bacterial mutations
C) Viral infections
D) Protein synthesis errors
  • 15. Which disorder is associated with a chromosomal deletion on the 15th chromosome?
A) Huntington's disease
B) Prader-Willi syndrome
C) Cri du chat syndrome
D) Marfan syndrome
  • 16. Which of the following is an abnormality involving the number of chromosomes?
A) Duplication
B) Aneuploidy
C) Translocation
D) Deletion
  • 17. What is the total number of chromosomes in a typical human karyotype?
A) 20
B) 48
C) 23
D) 46
  • 18. Which chromosomal abnormality involves the exchange of genetic material between nonhomologous chromosomes?
A) Duplication
B) Translocation
C) Inversion
D) Deletion
  • 19. What term describes a normal pairing of homologous chromosomes during meiosis?
A) Aneuploidy
B) Crossing over
C) Translocation
D) Synapsis
  • 20. What type of chromosomal abnormality involves the repetition of a segment of DNA multiple times within a chromosome?
A) Duplication
B) Translocation
C) Inversion
D) Deletion
  • 21. What is the term for the loss of a whole chromosome?
A) Trisomy
B) Monosomy
C) Tetrasomy
D) Aneuploidy
  • 22. Which type of chromosomal abnormality involves a piece of a chromosome breaking off and reattaching upside down?
A) Translocation
B) Deletion
C) Inversion
D) Duplication
  • 23. What is the haploid number of chromosomes in humans?
A) 23
B) 24
C) 22
D) 46
  • 24. Which of the following structures holds sister chromatids together?
A) Telomere
B) Gene
C) Centromere
D) Nucleolus
  • 25. What is the term for the specific location of a gene on a chromosome?
A) Locus
B) Allele
C) Codon
D) Chromosome map
  • 26. During which phase of the cell cycle does chromosomal duplication occur?
A) G2 phase
B) G1 phase
C) M phase
D) S phase
  • 27. How many autosomes do normal human somatic cells contain?
A) 44
B) 24
C) 22
D) 46
  • 28. What is the Philadelphia chromosome associated with?
A) Breast cancer.
B) Chronic myeloid leukemia.
C) Parkinson's disease.
D) Cystic fibrosis.
  • 29. What is the term for the appearance of an individual based on genetic makeup and environmental factors?
A) Genotype.
B) Phenotype.
C) Karyotype.
D) Allele.
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