Chromosomal Structure Changes and Abnormalities
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Questions and Answers

What is the result when a piece of one autosome becomes attached to another different autosome?

  • Duplication
  • Inversion
  • Translocation (correct)
  • Deletion
  • Which specific chromosomal abnormality is associated with chronic myelogenous leukemia (CML)?

  • Turner syndrome
  • Edwards syndrome
  • Philadelphia chromosome (correct)
  • Down syndrome
  • What can result if a chromosome undergoes a deletion?

  • Increased number of genes present
  • Formation of extra chromosomes
  • Loss of important genetic information (correct)
  • Improved genetic stability
  • Which type of structural chromosome change involves the gain of chromosomal material?

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

    When can structural changes in chromosomes occur?

    <p>During the formation of egg and sperm, during or shortly after conception, or they can be inherited</p> Signup and view all the answers

    What is often the result of large deletions in chromosomal material?

    <p>Incompatibility with life</p> Signup and view all the answers

    Study Notes

    Changes in Chromosome Size and Structure

    • Chromosomal material can break and rearrange, leading to structural changes during egg and sperm formation, conception, or inheriting from a parent.

    Translocations (t)

    • A piece of one autosome or sex chromosome breaks off and attaches to another different autosome or sex chromosome.
    • Example: 46,XY,t(9;22)(q34;q11.2) is the Philadelphia chromosome (Ph), associated with chronic myelogenous leukemia (CML).

    Deletions (loss of chromosomal material) (del)

    • A small part of a chromosome is lost, potentially leading to a genetic condition if the missing material contains important developmental information.
    • Large deletions are usually incompatible with life.
    • Deletions can occur anywhere along the length of any chromosome.

    Duplications (gain of chromosomal material) (dup)

    • A small part of a chromosome is gained, resulting in an increase in the number of genes present.
    • Duplications can lead to problems with health, development, or growth.
    • Duplications can occur anywhere along the length of any chromosome.

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    Description

    Learn about the changes that can occur in chromosome size and structure, including translocations and other abnormalities that can occur during conception or be inherited from parents.

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