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Questions and Answers
What condition is characterized by an additional copy of chromosome 18?
What condition is characterized by an additional copy of chromosome 18?
Which syndrome is an example of tetrasomy?
Which syndrome is an example of tetrasomy?
What is the definition of euploidy?
What is the definition of euploidy?
In which type of organism is monoploidy more tolerated?
In which type of organism is monoploidy more tolerated?
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What happens during total nondisjunction in a polyploid organism?
What happens during total nondisjunction in a polyploid organism?
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Which of the following describes the condition known as pentasomy?
Which of the following describes the condition known as pentasomy?
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What occurs as a result of a defect in the number of chromosomes or the arrangement of genetic material?
What occurs as a result of a defect in the number of chromosomes or the arrangement of genetic material?
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Which term is used to refer to the full set of chromosomes from an individual?
Which term is used to refer to the full set of chromosomes from an individual?
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What type of chromosomal aberration includes deletions and duplications?
What type of chromosomal aberration includes deletions and duplications?
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In which type of chromosomal abnormality do individuals typically not survive?
In which type of chromosomal abnormality do individuals typically not survive?
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What type of chromosomal abnormality involves the loss of one chromosome?
What type of chromosomal abnormality involves the loss of one chromosome?
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Which of the following conditions is an example of trisomy?
Which of the following conditions is an example of trisomy?
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What condition does a female with five X chromosomes have?
What condition does a female with five X chromosomes have?
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What is aneuploidy?
What is aneuploidy?
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Which organism is an example of normal monoploidy in its life cycle?
Which organism is an example of normal monoploidy in its life cycle?
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What can chromosomal aberrations interfere with?
What can chromosomal aberrations interfere with?
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Which chromosome count is typical in a person with Turner syndrome?
Which chromosome count is typical in a person with Turner syndrome?
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What type of chromosomal aberration results from errors during cell division?
What type of chromosomal aberration results from errors during cell division?
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What is a common cause of chromosomal abnormalities?
What is a common cause of chromosomal abnormalities?
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What is the outcome of chromosomal duplication?
What is the outcome of chromosomal duplication?
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What is the primary characteristic of balanced chromosomal rearrangements?
What is the primary characteristic of balanced chromosomal rearrangements?
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Which syndrome is caused by a deletion of the short arm from a chromosome?
Which syndrome is caused by a deletion of the short arm from a chromosome?
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What occurs during a reciprocal translocation?
What occurs during a reciprocal translocation?
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Which of the following describes an isochromosome?
Which of the following describes an isochromosome?
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How can chromosomal abnormalities occur?
How can chromosomal abnormalities occur?
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What is a common outcome of a deletion mutation?
What is a common outcome of a deletion mutation?
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Which chromosomal aberration involves a segment being inserted into another chromosome?
Which chromosomal aberration involves a segment being inserted into another chromosome?
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What defines a ring chromosome?
What defines a ring chromosome?
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Which factors can contribute to chromosomal abnormalities?
Which factors can contribute to chromosomal abnormalities?
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Which type of chromosomal aberration occurs when part of a chromosome is flipped and reattached?
Which type of chromosomal aberration occurs when part of a chromosome is flipped and reattached?
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Study Notes
Chromosomal Aberrations
- Chromosomal aberrations occur due to defects in chromosome number or arrangement of genetic material (genes).
- These defects lead to specific physical symptoms, but the severity varies depending on the type of aberration.
- Aberrations can involve additional material attached to a chromosome, a missing entire chromosome, or a faulty chromosome structure.
- Any change in the normal increase or decrease of chromosomal material disrupts normal development and function.
Karyotype
- A karyotype is the complete set of chromosomes from an individual.
- It's used to detect or confirm chromosomal abnormalities.
- A comparison of a given genome to a "normal" karyotype is used for genetic testing.
- Abnormalities often arise from errors in cell division (meiosis or mitosis).
Types of Chromosome Anomalies
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Numerical aberrations:
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Aneuploidy: Gain or loss of one or more chromosomes, but not a complete set. Examples include Down syndrome (47 chromosomes) and Turner syndrome (45 chromosomes).
- Monosomy: Loss of one chromosome.
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Trisomy: Gain of one extra chromosome.
- Down syndrome (Trisomy 21)
- Edwards Syndrome (Trisomy 18)
- Patau Syndrome (Trisomy 13)
- Nullisomy: Loss of a homologous chromosome pair.
- Tetrasomy: Gain of two extra chromosomes.
- Pentasomy: Gain of three extra chromosomes.
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Euploidy: Involves one or more complete haploid sets of chromosomes. More common in plants and less likely to cause problems than Aneuploidy.
- Monoploidy: A single set of chromosomes (1n). It is often lethal in animals but tolerated in some plant species.
- Polyploidy: Having three or more sets of chromosomes (e.g., triploidy, tetraploidy).
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Structural aberrations: Involve changes in the structure of chromosomes.
- Deletions: Loss of a segment of a chromosome.
- Duplications: A segment of a chromosome is repeated.
- Inversions: A segment of a chromosome is reversed.
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Translocations: A segment of one chromosome is transferred to another.
- Reciprocal translocation: Segments are exchanged between two non-homologous chromosomes.
- Robertsonian translocation: Two non-homologous chromosomes fuse at the centromere.
- Insertions: A segment of one chromosome is inserted into another chromosome.
- Rings (Ring chromosomes): Ends of a chromosome fuse to form a ring shape.
- Isochromosomes: A chromosome with two identical arms
How Chromosome Aberrations Occur
- Aberrations often occur by accident during egg or sperm formation or early stages of fetal development.
- Maternal age and environmental factors can play a role.
- Most aberrations are not inherited. Some can occur after conception causing mosaicism.
- Prenatal testing can detect chromosome abnormalities.
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Description
This quiz covers chromosomal aberrations, their types, and the role of karyotyping in detecting genetic abnormalities. You'll learn about numerical aberrations such as aneuploidy and their impact on human health. Test your knowledge on these crucial concepts in genetics.
