Podcast
Questions and Answers
What type of deletion involves two breaks and the loss of the intervening portion of the chromosome?
What type of deletion involves two breaks and the loss of the intervening portion of the chromosome?
What is the primary cause of structural chromosomal abnormalities?
What is the primary cause of structural chromosomal abnormalities?
Which of the following is an example of a Terminal deletion?
Which of the following is an example of a Terminal deletion?
What is the result of a large deletion in genetic material?
What is the result of a large deletion in genetic material?
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Which of the following environmental factors can induce structural chromosomal abnormalities?
Which of the following environmental factors can induce structural chromosomal abnormalities?
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What is the incidence of Cri-du Chat syndrome?
What is the incidence of Cri-du Chat syndrome?
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What type of chromosomal inversion involves a segment that includes the centromere?
What type of chromosomal inversion involves a segment that includes the centromere?
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What is the result of a ring chromosome formation?
What is the result of a ring chromosome formation?
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What is the characteristic of a terminal deletion?
What is the characteristic of a terminal deletion?
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What is the difference between a chromosomal duplication and an insertion?
What is the difference between a chromosomal duplication and an insertion?
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Which of the following syndromes is caused by an interstitial deletion of paternal chromosome 15?
Which of the following syndromes is caused by an interstitial deletion of paternal chromosome 15?
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What is required for the detection of micro-deletions that cannot be easily detected by karyotype?
What is required for the detection of micro-deletions that cannot be easily detected by karyotype?
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Which type of translocation involves an exchange of genetic material between two non-homologous chromosomes without any loss of genetic material?
Which type of translocation involves an exchange of genetic material between two non-homologous chromosomes without any loss of genetic material?
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What is the result of a break in one chromosome and a break in another chromosome, leading to the insertion of a fragment?
What is the result of a break in one chromosome and a break in another chromosome, leading to the insertion of a fragment?
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What is the result of a reciprocal translocation between a chromosome 16 and a chromosome 22?
What is the result of a reciprocal translocation between a chromosome 16 and a chromosome 22?
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Which type of translocation is involved in chronic myeloid leukemia?
Which type of translocation is involved in chronic myeloid leukemia?
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What is the result of a break in a chromosome, leading to a fragment being deleted from the end of the chromosome?
What is the result of a break in a chromosome, leading to a fragment being deleted from the end of the chromosome?
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What is the result of a break in a chromosome, leading to a fragment being inserted into a non-homologous chromosome?
What is the result of a break in a chromosome, leading to a fragment being inserted into a non-homologous chromosome?
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Study Notes
Deletions and Their Types
- Type of Deletion: Involves two breaks and loss of the intervening portion of the chromosome, known as interstitial deletion.
- Terminal Deletion Characteristic: Occurs when a segment of the chromosome is lost from one end, leading to a deletion at the end of the chromosome.
Causes and Incidence of Chromosomal Abnormalities
- Primary Cause: Structural chromosomal abnormalities are often caused by DNA breaks induced by environmental factors such as radiation, chemicals, or biological agents.
- Cri-du Chat Syndrome Incidence: Occurs in approximately 1 in 50,000 live births.
Types of Chromosomal Rearrangements
- Chromosomal Inversion Type: Pericentric inversion involves a segment that includes the centromere.
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Translocations:
- Reciprocal translocation involves an exchange of genetic material between two non-homologous chromosomes without losing genetic material.
- In chronic myeloid leukemia, a specific type of translocation, called the Philadelphia chromosome, is involved.
Genetic Material Changes and Their Effects
- Result of Large Deletion: Leads to significant loss of genetic material which can cause various genetic disorders and developmental issues.
- Micro-deletion Detection: Requires advanced techniques such as FISH (Fluorescence In Situ Hybridization) to identify deletions not visible through standard karyotyping.
- Ring Chromosome Formation: Results from the ends of a chromosome joining together, often resulting in loss of genetic information and related phenotypic abnormalities.
Translocations and Breaks
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Result of Chromosomal Breaks:
- A break and subsequent insertion of a fragment into another chromosome, known as translocation, can disrupt gene function.
- A break leading to deletion from the end results in a terminal deletion which alters chromosome structure and genetic stability.
Duplications vs. Insertions
- Difference: Chromosomal duplication involves a segment being duplicated, creating extra genetic material, while insertion involves additional genetic material being added into a chromosome from a different source.
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Description
Test your knowledge on structural chromosomal abnormalities, including their significance, nomenclature, and genetic material rearrangement. This quiz covers topics from Human Heredity Chapters 6 and 7, and New Clinical Genetics Chapters 2 and 12.
