Podcast
Questions and Answers
What is the result when a piece of one autosome becomes attached to another different autosome?
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)?
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?
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?
Which type of structural chromosome change involves the gain of chromosomal material?
When can structural changes in chromosomes occur?
When can structural changes in chromosomes occur?
What is often the result of large deletions in chromosomal material?
What is often the result of large deletions in chromosomal material?
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.
