Podcast
Questions and Answers
What is the leading known cause of intellectual disability and pregnancy loss?
What is the leading known cause of intellectual disability and pregnancy loss?
- Single-gene diseases
- Chromosome abnormalities (correct)
- Congenital malformations
- Molecular genetics
In what percentage of first-trimester spontaneous abortions are chromosome abnormalities seen?
In what percentage of first-trimester spontaneous abortions are chromosome abnormalities seen?
- 50% (correct)
- 10%
- 30%
- 70%
What has contributed many new insights in the field of cytogenetics?
What has contributed many new insights in the field of cytogenetics?
- Specific genes contributing to cytogenetic syndromes
- Identification of DNA polymorphisms
- Advances in molecular genetics (correct)
- Molecular techniques
What has enabled researchers to specify whether an altered chromosome is derived from the mother or from the father?
What has enabled researchers to specify whether an altered chromosome is derived from the mother or from the father?
Which condition is much rarer than triploidy at conception and among live births?
Which condition is much rarer than triploidy at conception and among live births?
What is the term for cells that contain missing or additional individual chromosomes?
What is the term for cells that contain missing or additional individual chromosomes?
What is the most common cause of aneuploidy?
What is the most common cause of aneuploidy?
What is the term for the presence of only one copy of a chromosome in an otherwise diploid cell?
What is the term for the presence of only one copy of a chromosome in an otherwise diploid cell?
Which type of trisomies are seen with appreciable frequencies among live births?
Which type of trisomies are seen with appreciable frequencies among live births?
What is the term for the failure of chromosomes to disjoin normally during meiosis?
What is the term for the failure of chromosomes to disjoin normally during meiosis?
Which condition consists primarily of monosomies and trisomies?
Which condition consists primarily of monosomies and trisomies?
What does the body tolerate more readily, excess genetic material or a deficit of genetic material?
What does the body tolerate more readily, excess genetic material or a deficit of genetic material?
Which staining technique developed in the 1970s produces chromosome bands facilitating the identification of individual chromosomes?
Which staining technique developed in the 1970s produces chromosome bands facilitating the identification of individual chromosomes?
What does the term 'karyotype' refer to?
What does the term 'karyotype' refer to?
What is the typical chromosome constitution for a normal male according to the text?
What is the typical chromosome constitution for a normal male according to the text?
Which staining technique is useful in identifying unknown chromosomal material?
Which staining technique is useful in identifying unknown chromosomal material?
What do major bands on each chromosome indicate?
What do major bands on each chromosome indicate?
What is a karyogram?
What is a karyogram?
Which technique is used for identifying chromosomal material in specific regions?
Which technique is used for identifying chromosomal material in specific regions?
What is the typical chromosome constitution for a normal female according to the text?
What is the typical chromosome constitution for a normal female according to the text?
What does the term 'karyotype' not include?
What does the term 'karyotype' not include?
Which technique is used to visualize the nucleolar organizer regions (NORs) on chromosomes?
Which technique is used to visualize the nucleolar organizer regions (NORs) on chromosomes?
What does the term 'karyogram' not represent?
What does the term 'karyogram' not represent?
Which staining technique is used to identify chromosomal material in specific regions, such as centromeres and telomeres?
Which staining technique is used to identify chromosomal material in specific regions, such as centromeres and telomeres?
Which technique allows visualization of specific DNA sequences on chromosomes using fluorescent probes?
Which technique allows visualization of specific DNA sequences on chromosomes using fluorescent probes?
What is the advantage of FISH over high-resolution banding approaches?
What is the advantage of FISH over high-resolution banding approaches?
Which technique uniquely colors each chromosome for easy identification?
Which technique uniquely colors each chromosome for easy identification?
What is the main application of spectral karyotyping in clinical practice?
What is the main application of spectral karyotyping in clinical practice?
Which technique involves staining chromosomes during prophase or early metaphase?
Which technique involves staining chromosomes during prophase or early metaphase?
What is the purpose of various banding techniques such as quinacrine, Giemsa, reverse, C, and NOR banding?
What is the purpose of various banding techniques such as quinacrine, Giemsa, reverse, C, and NOR banding?
What is the minimum size of deletions that FISH can detect?
What is the minimum size of deletions that FISH can detect?
Which technique is now rarely needed in clinical practice due to the increasing use of comparative genomic hybridization?
Which technique is now rarely needed in clinical practice due to the increasing use of comparative genomic hybridization?
What is the main advantage of FISH in clinical applications?
What is the main advantage of FISH in clinical applications?
Which technique can be used to test several common numerical abnormalities simultaneously in the same cell?
Which technique can be used to test several common numerical abnormalities simultaneously in the same cell?
What does the banding pattern of a G-banded karyotype help identify?
What does the banding pattern of a G-banded karyotype help identify?
Which technique increases the number of observable bands from about 300 to as many as 800?
Which technique increases the number of observable bands from about 300 to as many as 800?
Which technique offers the highest resolution for detecting deletions and duplications of less than 20 kb in size?
Which technique offers the highest resolution for detecting deletions and duplications of less than 20 kb in size?
Which technique can detect loss of heterozygosity and uniparental disomy?
Which technique can detect loss of heterozygosity and uniparental disomy?
Which technique is commonly used in cytogenetics laboratories due to automation and minimal DNA requirements?
Which technique is commonly used in cytogenetics laboratories due to automation and minimal DNA requirements?
Which type of chromosomal abnormality can FISH detect?
Which type of chromosomal abnormality can FISH detect?
What does CGH detect?
What does CGH detect?
Which type of polyploidy is seen commonly in plants and less frequently in humans?
Which type of polyploidy is seen commonly in plants and less frequently in humans?
What is the cause of triploidy in about 1 in 10,000 live births?
What is the cause of triploidy in about 1 in 10,000 live births?
Which technique cannot detect balanced rearrangements of chromosomes?
Which technique cannot detect balanced rearrangements of chromosomes?
What is the type of polyploidy seen in about 1 in 10,000 live births?
What is the type of polyploidy seen in about 1 in 10,000 live births?
What does array CGH (aCGH) offer higher resolution than?
What does array CGH (aCGH) offer higher resolution than?
What does CGH utilize to detect losses or duplications of whole chromosomes or specific chromosome regions?
What does CGH utilize to detect losses or duplications of whole chromosomes or specific chromosome regions?
What does FISH detect in chromosomes?
What does FISH detect in chromosomes?
Study Notes
Cytogenetic Techniques and Chromosome Abnormalities
- FISH is a technique using labeled probes to detect chromosomal abnormalities in metaphase, prophase, or interphase chromosomes.
- FISH can detect missing or additional chromosomal material as well as chromosome rearrangements.
- CGH is a widely used technique to detect losses or duplications of whole chromosomes or specific chromosome regions.
- CGH utilizes labeled DNA from a test source and normal control cells, where excess quantities of labeled DNA indicate duplications and deletions.
- Array CGH (aCGH) offers higher resolution than traditional CGH, detecting duplications and deletions at a resolution of 50 to 100 kb or even less.
- Cytogenomic microarray (CMA) is a newer technique with even higher resolution, detecting deletions and duplications of less than 20 kb in size.
- CMA can also detect loss of heterozygosity and uniparental disomy, offering a wider range of diagnostic yield.
- Array CGH and CMA have become the most commonly used techniques in cytogenetics laboratories due to automation and minimal DNA requirements.
- These techniques cannot detect balanced rearrangements of chromosomes, such as reciprocal translocations or inversions.
- Polyploidy, the presence of a complete set of extra chromosomes in a cell, is seen commonly in plants and less frequently in humans.
- Triploidy is a type of polyploidy seen in about 1 in 10,000 live births, often resulting in spontaneous abortion and causing multiple anomalies.
- Triploidy can be caused by fertilization of an egg by two sperm (dispermy) or fusion of an ovum and a polar body, followed by fertilization by a sperm cell.
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Description
Test your knowledge of cytogenetic techniques and chromosome abnormalities with this quiz. Explore topics such as FISH, CGH, aCGH, CMA, and their abilities to detect chromosomal abnormalities. Learn about polyploidy, triploidy, and their causes and effects.
