Structural Chromosome Abnormalities Quiz
10 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

Which technique provides information about structural abnormalities and requires global mosaicism?

  • Interphase FISH
  • Metaphase FISH
  • GMA
  • G-banded chromosomes (correct)
  • What is the rate of unbalanced structural rearrangements in newborns per 1000 births?

  • 0.16
  • 0.97
  • 2.04
  • 0.63 (correct)
  • Which type of structural abnormality is less frequently detected in newborns per 1000 births than others listed?

  • Deletions, rings (correct)
  • Robertsonian Translocations
  • Inversions
  • Balanced Structural Rearrangements
  • Which type of FISH does not require global mosaicism but provides structural information?

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

    What is the resolution of GMA in kb?

    <p>10-100's</p> Signup and view all the answers

    What is a characteristic of structural chromosome abnormalities?

    <p>They can involve either balanced or unbalanced rearrangements.</p> Signup and view all the answers

    Which mechanism is responsible for double-stranded breaks that are incorrectly repaired leading to structural chromosome abnormalities?

    <p>Non-homologous end-joining</p> Signup and view all the answers

    In structural abnormalities, what does the notation 'del(11)(p11.2p13)' signify?

    <p>A deletion on chromosome 11 between bands p11.2 and p13.</p> Signup and view all the answers

    Which of the following best defines a Robertsonian translocation?

    <p>A whole arm translocation between acrocentric chromosomes.</p> Signup and view all the answers

    The term 'mos' in karyotype nomenclature stands for what condition?

    <p>The presence of multiple cell lines or clones.</p> Signup and view all the answers

    More Like This

    Use Quizgecko on...
    Browser
    Browser