Podcast
Questions and Answers
Which condition is characterized by having an extra chromosome 18?
Which condition is characterized by having an extra chromosome 18?
- Trisomy 8
- Trisomy 18 (correct)
- Trisomy 13
- Trisomy 21
What is the most common result of Monoploidy in animals?
What is the most common result of Monoploidy in animals?
- Normal development
- Enhanced survival rates
- Increased muscle tone
- Lethality (correct)
Which of the following syndromes is associated with an additional two X chromosomes?
Which of the following syndromes is associated with an additional two X chromosomes?
- XXYY syndrome
- Penta X Syndrome
- Klinefelter's syndrome (correct)
- Turner syndrome
Which type of chromosomal aberration involves a complete loss of homologous chromosome pairs?
Which type of chromosomal aberration involves a complete loss of homologous chromosome pairs?
What is the term used to refer to the full set of chromosomes from an individual?
What is the term used to refer to the full set of chromosomes from an individual?
What type of chromosomal abnormality is Euploidy?
What type of chromosomal abnormality is Euploidy?
Which type of chromosomal abnormality occurs when a whole chromosome is missing?
Which type of chromosomal abnormality occurs when a whole chromosome is missing?
Which type of chromosomal aberration includes deletions, duplications, and inversions?
Which type of chromosomal aberration includes deletions, duplications, and inversions?
Which condition results in individuals having five X chromosomes?
Which condition results in individuals having five X chromosomes?
What is the main consequence of numerical chromosomal aberrations such as aneuploidy?
What is the main consequence of numerical chromosomal aberrations such as aneuploidy?
What does the term 'Polyploidy' refer to?
What does the term 'Polyploidy' refer to?
Which syndrome is an example of trisomy?
Which syndrome is an example of trisomy?
How are chromosomal aberrations typically confirmed?
How are chromosomal aberrations typically confirmed?
What is the primary cause of chromosomal abnormalities?
What is the primary cause of chromosomal abnormalities?
What effect do structural aberrations generally have on chromosomes?
What effect do structural aberrations generally have on chromosomes?
What typically allows balanced chromosomal rearrangements to go unnoticed?
What typically allows balanced chromosomal rearrangements to go unnoticed?
A person with Turner syndrome typically has how many chromosomes?
A person with Turner syndrome typically has how many chromosomes?
Which syndrome is associated with a deletion of a portion of chromosome 4?
Which syndrome is associated with a deletion of a portion of chromosome 4?
What is the result of a duplication in genetic material?
What is the result of a duplication in genetic material?
Which of the following types of structural aberrations involves the transfer of a chromosome segment to another chromosome?
Which of the following types of structural aberrations involves the transfer of a chromosome segment to another chromosome?
What characterizes a Robertsonian translocation?
What characterizes a Robertsonian translocation?
Which factor is NOT associated with the occurrence of chromosomal aberrations?
Which factor is NOT associated with the occurrence of chromosomal aberrations?
What type of chromosomal aberration involves a chromosome breaking, turning upside down, and reattaching?
What type of chromosomal aberration involves a chromosome breaking, turning upside down, and reattaching?
What is mosaicism in the context of chromosomal abnormalities?
What is mosaicism in the context of chromosomal abnormalities?
Flashcards
Chromosomal Aberration
Chromosomal Aberration
A defect in the number or arrangement of chromosomes in a cell.
Numerical Aberration
Numerical Aberration
A change in the number of chromosomes, often due to errors in cell division.
Aneuploidy
Aneuploidy
A change in the number of chromosomes, where a single chromosome is either gained or lost.
Monosomy
Monosomy
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Trisomy
Trisomy
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Down Syndrome
Down Syndrome
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Turner Syndrome
Turner Syndrome
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Karyotype
Karyotype
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Chromosome 18 Trisomy
Chromosome 18 Trisomy
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Chromosome 13 Trisomy
Chromosome 13 Trisomy
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Monoploidy
Monoploidy
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Polyploidy
Polyploidy
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Structural Aberrations
Structural Aberrations
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Nondisjunction
Nondisjunction
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Balanced chromosomal rearrangements
Balanced chromosomal rearrangements
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Deletions
Deletions
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Duplications
Duplications
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Translocations
Translocations
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Reciprocal translocation
Reciprocal translocation
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Robertsonian translocation
Robertsonian translocation
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Chromosomal abnormalities cause
Chromosomal abnormalities cause
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Mosaicism
Mosaicism
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Study Notes
Chromosomal Aberrations
- Chromosomal aberrations occur due to defects in chromosome number or arrangement of genetic material (genes) within a chromosome.
- These abnormalities lead to specific physical symptoms, though severity varies depending on the type of aberration.
- Aberrations can involve extra genetic material attached to a chromosome, missing whole chromosomes, or faulty chromosome formations.
- Increases (duplications) or decreases (deletions) in chromosomal material disrupt normal development and function.
- Normal human cells contain 46 chromosomes. Any changes in this number or structure cause anomalies.
- Karyotype analysis compares a genome to the "normal" karyotype of a species to identify abnormalities.
- Errors during cell division (meiosis or mitosis) commonly lead to chromosomal abnormalities.
Types of Chromosomal Anomalies
Numerical Aberrations
- These are caused by errors during chromosome division in meiosis, resulting in extra or missing chromosomes.
- Common types include:
- Aneuploidy: Gain or loss of one or more, but not a complete set, of chromosomes, affecting the nuclei.
- Examples: Down Syndrome (47 chromosomes), Turner Syndrome (45 chromosomes).
- Polyploidy: Gain of a whole set of chromosomes (3n, 4n, etc.)
- Examples: Triploidy (3n), Tetraploidy (4n).
- Monoploidy (n): Single set of chromosomes, often lethal in animals but tolerated in some plants.
- Aneuploidy: Gain or loss of one or more, but not a complete set, of chromosomes, affecting the nuclei.
Structural Aberrations
- These result from changes in the chromosome's structure, not the number.
- Types include:
- Deletions: Loss of a chromosome segment.
- Duplications: Duplication of a chromosome segment.
- Inversions: A chromosome segment reverses.
- Translocations: Transfer of a chromosome segment to another chromosome.
- Insertions: Insertion of a segment from one chromosome into another.
- Rings: Formation of a circular chromosome due to breaks and re-joining.
- Isochromosomes: A chromosome with duplicated copies of one arm and a missing other.
How Chromosomal Aberrations Occur
- Errors during egg or sperm development, or early fetal development, are common causes.
- Maternal age and some environmental factors can contribute to the risk of chromosomal anomalies.
- Most abnormalities are not inherited, arising as random events in the reproductive cells.
- In mosaicism, there are cells with and without the abnormality.
- Prenatal testing can detect some, but not all, chromosomal abnormalities.
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