Podcast
Questions and Answers
What is Trisomy 18 commonly known as?
What is Trisomy 18 commonly known as?
- Warkany syndrome
- Patau syndrome
- Edwards syndrome (correct)
- Klinefelter syndrome
Which of the following types of abnormalities involves gaining two additional chromosomes?
Which of the following types of abnormalities involves gaining two additional chromosomes?
- Tetrasomy (correct)
- Trisomy
- Pentasomy
- Nullisomy
What defines Pentasomy?
What defines Pentasomy?
- Loss of a pair of homologous chromosomes
- Loss of one set of chromosomes
- Gain of three extra chromosomes (correct)
- Gain of five extra chromosomes
Which condition is described as a cell having a single set of chromosomes, represented by 1n?
Which condition is described as a cell having a single set of chromosomes, represented by 1n?
What type of chromosomal abnormality involves a complete loss of a homologous chromosome pair?
What type of chromosomal abnormality involves a complete loss of a homologous chromosome pair?
Which condition can be lethal in animals but is more tolerated in plants?
Which condition can be lethal in animals but is more tolerated in plants?
What term describes an organism that has three or more sets of chromosomes?
What term describes an organism that has three or more sets of chromosomes?
Which structural aberration involves the removal of genetic material?
Which structural aberration involves the removal of genetic material?
What is a potential outcome of total nondisjunction of chromosomes during mitosis?
What is a potential outcome of total nondisjunction of chromosomes during mitosis?
Which syndrome is characterized by an individual having five X chromosomes?
Which syndrome is characterized by an individual having five X chromosomes?
What is meant by the term 'chromosomal aberration'?
What is meant by the term 'chromosomal aberration'?
Which type of chromosomal aberration is characterized by the gain or loss of one or more chromosomes?
Which type of chromosomal aberration is characterized by the gain or loss of one or more chromosomes?
What is a karyotype?
What is a karyotype?
What results from aneuploidy?
What results from aneuploidy?
What type of aneuploidy involves losing one chromosome?
What type of aneuploidy involves losing one chromosome?
Which disorder is characterized by having 47 chromosomes instead of the normal 46?
Which disorder is characterized by having 47 chromosomes instead of the normal 46?
What can chromosomal abnormalities affect?
What can chromosomal abnormalities affect?
Which of the following is NOT a common form of chromosomal abnormality?
Which of the following is NOT a common form of chromosomal abnormality?
What happens during cell division that can lead to chromosomal aberrations?
What happens during cell division that can lead to chromosomal aberrations?
Which of the following is an example of a structural aberration?
Which of the following is an example of a structural aberration?
What type of chromosomal aberration is characterized by a part of a chromosome being missing or removed?
What type of chromosomal aberration is characterized by a part of a chromosome being missing or removed?
Which syndrome is associated with the deletion of part of the short arm of chromosome 4?
Which syndrome is associated with the deletion of part of the short arm of chromosome 4?
What describes a reciprocal translocation?
What describes a reciprocal translocation?
Which structural aberration involves a portion of one chromosome being deleted and inserted into another?
Which structural aberration involves a portion of one chromosome being deleted and inserted into another?
What can result from an isochromosome?
What can result from an isochromosome?
Which chromosomal aberration is characterized by a chromosome undergoing two breaks that fuse into a circular formation?
Which chromosomal aberration is characterized by a chromosome undergoing two breaks that fuse into a circular formation?
How are most chromosomal abnormalities believed to occur?
How are most chromosomal abnormalities believed to occur?
What term describes when chromosomal abnormalities are only present in some cells of the body post-conception?
What term describes when chromosomal abnormalities are only present in some cells of the body post-conception?
Which of the following is considered a potential environmental factor contributing to chromosomal abnormalities?
Which of the following is considered a potential environmental factor contributing to chromosomal abnormalities?
What type of chromosomal structural change involves a segment being broken, inverted, and reattached?
What type of chromosomal structural change involves a segment being broken, inverted, and reattached?
Flashcards
Chromosomal Aberration
Chromosomal Aberration
A defect in chromosome number or arrangement, causing specific physical symptoms. Severity depends on the type.
Numerical Aberration
Numerical Aberration
A change in the number of chromosomes, often resulting from errors in cell division (meiosis or mitosis).
Aneuploidy
Aneuploidy
A type of numerical aberration where an organism gains or loses one or more chromosomes but not a whole set.
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 structure
Chromosome structure
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Chromosome division errors
Chromosome division errors
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Trisomy 18 (Edwards syndrome)
Trisomy 18 (Edwards syndrome)
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Trisomy 13 (Patau syndrome)
Trisomy 13 (Patau syndrome)
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Nullisomy
Nullisomy
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Monoploidy
Monoploidy
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Polyploidy
Polyploidy
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Structural Aberrations
Structural Aberrations
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Balanced Rearrangements
Balanced Rearrangements
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Deletion
Deletion
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Duplication
Duplication
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Translocation
Translocation
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Reciprocal Translocation
Reciprocal Translocation
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Robertsonian Translocation
Robertsonian Translocation
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Inversion
Inversion
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Insertions
Insertions
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Ring Chromosome
Ring Chromosome
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Study Notes
Chromosomal Aberrations
- Chromosomal aberrations occur due to defects in chromosome number or gene arrangement.
- These abnormalities lead to specific physical symptoms, and severity varies based on the aberration type.
- Aberrations can include extra genetic material, missing chromosomes, or faulty formations.
- Increases or decreases in chromosomal material disrupt normal development and function.
- Humans have 46 chromosomes; alterations in number or structure cause abnormalities.
- Karyotyping is a method used to detect chromosomal abnormalities by comparing a genome to a standard karyotype.
- Errors during meiosis or mitosis lead to chromosomal abnormalities.
Types of Chromosomal Anomalies
- Numerical:
- Aneuploidy: Gain or loss of one or more chromosomes, but not a full set. Examples include Down syndrome (47 chromosomes) and Turner syndrome (45 chromosomes).
- Monosomy - loss of one chromosome (e.g., Turner syndrome).
- Trisomy - gain of one extra chromosome (e.g., Down syndrome, Trisomy 18, Trisomy 13).
- Polyploidy - having more than two sets of chromosomes (e.g., triploidy, tetraploidy).
- Aneuploidy is caused by errors in chromosome division (nondisjunction) during meiosis.
- Euploidy: Involves complete haploid sets of chromosomes. More common in plants than animals.
- Monoploidy: A single set of chromosomes (lethal in animals, more tolerated in plants).
- Polyploidy: More than two sets of chromosomes.
- Aneuploidy: Gain or loss of one or more chromosomes, but not a full set. Examples include Down syndrome (47 chromosomes) and Turner syndrome (45 chromosomes).
- Structural:
- A change in the structure of a chromosome's parts.
- Deletions: Missing segments of a chromosome.
- Duplications: Extra copies of segments.
- Inversions: A segment of a chromosome is reversed.
- Translocations: Segments of different chromosomes exchanged.
- Reciprocal translocation: segments of different chromosomes are exchanged.
- Robertsonian translocation: two chromosomes fuse at the centromere.
- Insertions: A segment from one chromosome is inserted into another.
- Rings: A broken chromosome forms a ring.
- Isochromosomes: One arm of a chromosome is duplicated, and the other is lost.
Causes of Chromosomal Aberrations
- Accidents during egg or sperm formation.
- Errors during early fetal development.
- Environmental factors.
Prenatal testing
- Prenatal testing can identify chromosomal abnormalities, to assist with informed decision making.
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Description
This quiz focuses on chromosomal aberrations, including their types, causes, and consequences. Understand how defects in chromosome number or structure lead to various genetic disorders and the methods used for detection. Test your knowledge on aneuploidy, karyotyping, and more.
