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Questions and Answers
What is the result when a piece of one autosome becomes attached to another different autosome?
Which specific chromosomal abnormality is associated with chronic myelogenous leukemia (CML)?
What can result if a chromosome undergoes a deletion?
Which type of structural chromosome change involves the gain of chromosomal material?
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When can structural changes in chromosomes occur?
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What is often the result of large deletions in chromosomal material?
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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.
