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Questions and Answers
What type of chromosomal abnormality is characterized by having an abnormal number of chromosomes?
What type of chromosomal abnormality is characterized by having an abnormal number of chromosomes?
What is the term for the duplication of a portion of a chromosome?
What is the term for the duplication of a portion of a chromosome?
What is the result of the failure of chromosomes to separate properly during meiosis?
What is the result of the failure of chromosomes to separate properly during meiosis?
What is the result of a chromosomal abnormality that can lead to physical abnormalities present at birth?
What is the result of a chromosomal abnormality that can lead to physical abnormalities present at birth?
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What is the term for the exchange of genetic material between non-homologous chromosomes?
What is the term for the exchange of genetic material between non-homologous chromosomes?
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What is the term for having more than two sets of chromosomes?
What is the term for having more than two sets of chromosomes?
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What is the point of infinite density and zero volume at the center of a black hole?
What is the point of infinite density and zero volume at the center of a black hole?
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What is the region around a black hole where the gravitational pull is so strong that anything that crosses it will be pulled in?
What is the region around a black hole where the gravitational pull is so strong that anything that crosses it will be pulled in?
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What type of black hole is formed from the collapse of individual stars?
What type of black hole is formed from the collapse of individual stars?
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What is the bending of light around a black hole due to its strong gravity?
What is the bending of light around a black hole due to its strong gravity?
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What is the term for the rotation of spacetime around a rotating black hole?
What is the term for the rotation of spacetime around a rotating black hole?
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What happens to objects that get too close to a black hole due to the intense gravitational force?
What happens to objects that get too close to a black hole due to the intense gravitational force?
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What is the region around a rotating black hole where the curvature of spacetime is so strong that it can extract energy from objects that enter it?
What is the region around a rotating black hole where the curvature of spacetime is so strong that it can extract energy from objects that enter it?
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What type of black hole is found at the center of galaxies, with masses millions or even billions of times that of the sun?
What type of black hole is found at the center of galaxies, with masses millions or even billions of times that of the sun?
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What is the term for the point of no return around a black hole?
What is the term for the point of no return around a black hole?
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What type of black hole has a mass that falls between those of stellar and supermassive black holes?
What type of black hole has a mass that falls between those of stellar and supermassive black holes?
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Study Notes
Chromosomal Abnormalities
Types of Chromosomal Abnormalities
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Numerical abnormalities: abnormalities in the number of chromosomes
- Aneuploidy: having an abnormal number of chromosomes (e.g. 45,X or 47,XY,+21)
- Polyploidy: having more than two sets of chromosomes (e.g. 69,XXX)
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Structural abnormalities: abnormalities in the structure of chromosomes
- Deletions: loss of a portion of a chromosome
- Duplications: duplication of a portion of a chromosome
- Translocations: exchange of genetic material between non-homologous chromosomes
- Inversions: reversal of a segment of a chromosome
Causes of Chromosomal Abnormalities
- Non-disjunction: failure of chromosomes to separate properly during meiosis
- Mutations: changes in the DNA sequence of a chromosome
- Environmental factors: exposure to certain chemicals or radiation
Effects of Chromosomal Abnormalities
- Birth defects: physical abnormalities present at birth
- Developmental delays: delays in physical or mental development
- Intellectual disability: impaired cognitive function
- Increased risk of certain diseases: e.g. cancer or autoimmune disorders
Examples of Chromosomal Abnormalities
- Down syndrome: trisomy 21 (47,XY,+21)
- Turner syndrome: monosomy X (45,X)
- Klinefelter syndrome: 47,XXY
- Cri-du-chat syndrome: deletion of the short arm of chromosome 5 (5p-)
Detection and Diagnosis
- Prenatal testing: amniocentesis or chorionic villus sampling (CVS) to detect chromosomal abnormalities in a fetus
- Karyotyping: examination of chromosomes to identify abnormalities
- Fluorescence in situ hybridization (FISH): uses fluorescent probes to detect specific chromosomes or chromosomal regions
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Description
Learn about the different types of chromosomal abnormalities, their causes, effects, and examples. Understand how they are detected and diagnosed, and their implications on human health.
