Unravel the Mysteries of Female Sex Chromosome Aneuploidies!
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Questions and Answers

Which staining method is used to enhance the staining of AT-rich regions on metaphase chromosomes?

  • G (Giemsa) staining (correct)
  • Q staining
  • R staining
  • No staining method is used
  • What is the banding pattern related to GC-rich regions called?

  • Q-banding
  • G-banding
  • P-banding
  • R-banding (correct)
  • How is the position of a band on a chromosome determined in a karyotype?

  • By the number of sub-bands
  • By the length of the band
  • By the presence of specific genes
  • By the distance from the centromere (correct)
  • What is the abbreviation used to describe a structurally rearranged chromosome with intact centromere?

    <p>der</p> Signup and view all the answers

    Which type of chromosomes are used for metaphase spread?

    <p>Metaphase chromosomes</p> Signup and view all the answers

    Which type of chromosomes are used for interphase analysis?

    <p>Interphase chromosomes</p> Signup and view all the answers

    What is the disadvantage of using chromosomal microarrays for analysis?

    <p>Limited coverage of the genome</p> Signup and view all the answers

    What is the resolution of single molecule optical mapping for detecting structural aberrations?

    <p>Greater than 500bp</p> Signup and view all the answers

    Which of the following is an example of a female sex chromosome aneuploidy?

    <p>Turner syndrome (XO)</p> Signup and view all the answers

    Which of the following is true about trisomy 21 (Down syndrome)?

    <p>It is observed in 95% of cases</p> Signup and view all the answers

    Which of the following is true about chromosomal aberrations?

    <p>All of the above</p> Signup and view all the answers

    Which of the following is an example of a structural aberration?

    <p>Deletion</p> Signup and view all the answers

    Which of the following is NOT a template used by DNA repair mechanisms for base pairing/polymerization or end joining after trimming?

    <p>None of the above</p> Signup and view all the answers

    What is the main goal of studying CRISPer-based gene repair?

    <p>To improve the efficiency of CRISPer for gene repair</p> Signup and view all the answers

    Which of the following is true about balanced structural aberrations?

    <p>They can cause loops during meiosis</p> Signup and view all the answers

    What are the possible types of mutations that can result from errors in DNA repair processes?

    <p>All of the above</p> Signup and view all the answers

    Which of the following accurately describes the process of meiosis?

    <p>A form of DNA damage followed by repair resulting in four haploid cells</p> Signup and view all the answers

    What is the purpose of homologous recombination in meiosis?

    <p>To create genetic diversity by shuffling genes between maternal and paternal chromosomes</p> Signup and view all the answers

    Which of the following accurately describes the role of homologous sisters in meiosis?

    <p>Homologous sisters remain linked together after homologous recombination</p> Signup and view all the answers

    What is the difference between crossover and non-crossover during homologous recombination in meiosis?

    <p>Crossover results in swapping segments between break points, while non-crossover does not</p> Signup and view all the answers

    Which type of repair removes the modified base, cleaves out the backbone, fills in, and ligates?

    <p>Base excision repair (BER)</p> Signup and view all the answers

    Which repair pathway occurs at base mismatches and short insertions or deletions?

    <p>Mismatch/short indel repair (MMR)</p> Signup and view all the answers

    Which repair process joins blunted ends and can join non-homologs if multiple chromosomes are broken to give structural aberrations?

    <p>Classical non-homologous end joining (C-NHEJ)</p> Signup and view all the answers

    Which repair pathway uses a homolog (in meiosis) or sister chromatid (interphase S/G2) as a template for repair of damaged strands?

    <p>Homologous recombination (HR)</p> Signup and view all the answers

    Which of the following is a possible cause of unbalanced structural aberrations?

    <p>Duplications and deletions</p> Signup and view all the answers

    What is the estimated frequency of all different types of structural aberrations?

    <p>1/400</p> Signup and view all the answers

    Which syndrome is characterized by a translocation of part of the Y chromosome onto the X chromosome?

    <p>XX male syndrome</p> Signup and view all the answers

    What is the phenotype of individuals with Cri du chat syndrome?

    <p>All of the above</p> Signup and view all the answers

    Which type of aberration involves incorrect pairing of homologous regions during gametogenesis?

    <p>Meiotic errors</p> Signup and view all the answers

    What is the impact of most structural aberrations on disease development?

    <p>Most do not cause disease</p> Signup and view all the answers

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