Cytogenetics: Structural Abnormalities
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Questions and Answers

Which of the following are types of structural rearrangements?

  • Inversions
  • Duplications
  • Translocations
  • All of the above (correct)
  • Imbalanced rearrangements involve a gain or loss of genetic material.

    True

    What is the term used for rearrangements that do not involve loss or gain of genetic chromatin?

    Balanced rearrangements

    Structural aberrations can happen due to errors during ______.

    <p>meiosis and mitosis</p> Signup and view all the answers

    What happens during an inversion?

    <p>A segment of a chromosome is reversed end to end</p> Signup and view all the answers

    Study Notes

    Cytogenetic Notation

    • Each chromosome region is given a number
    • Lowest number is closest (proximal) to the centromere
    • Highest number is at the tips (distal) to the centromere

    Structural Abnormalities

    • Result from breakage of a chromosome region
    • Followed by rejoining in an abnormal combination
    • Classified into two general types: Balanced rearrangements and imbalanced rearrangements

    Balanced Rearrangements

    • No loss or gain of genetic chromatin
    • Change the gene order but do not remove or duplicate any DNA

    Imbalanced Rearrangements

    • Gain or loss of genetic material
    • Change the gene dosage of a part of the affected chromosomes

    Structural Aberrations Causes

    • Errors during meiosis
    • Errors during mitosis
    • Exposure to teratogens (substances that cause birth defects)

    Structural Rearrangements

    • Inversions
    • Deletions
    • Ring formations
    • Duplications
    • Isochromosomes
    • Insertions
    • Translocations

    Inversions

    • A segment of a chromosome is reversed end to end
    • Occurs when a single chromosome undergoes breakage and rearrangement within itself
    • Can be inherited or a mutation that appears in a child without a family history
    • A sequence of nucleotides in the DNA is reversed or flipped

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    Description

    This quiz focuses on cytogenetic notation and the types of structural abnormalities in chromosomes. It covers balanced and imbalanced rearrangements, their causes, and different types of structural rearrangements. Test your knowledge and understanding of chromosomal abnormalities.

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