Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
6. Chromosomal Variation
Chromosomal Mutations: Aneuploidy
3:43 minutes
Problem 28
Textbook Question
Textbook QuestionMost cases of Turner syndrome are attributed to nondisjunction of one or more of the sex chromosomes during gametogenesis, from either the male or female parent. However, some females possess a rare form of Turner syndrome in which some of the cells of the body (somatic cells) lack an X chromosome, while other cells have the normal two X chromosomes. Often detected in blood and/or skin cells, such individuals with mosaic Turner syndrome may exhibit relatively mild symptoms. An individual may be specified as 45,X(20)/46,XX(80) if, for example, 20 percent of the cells examined were X monosomic. How might mitotic events cause such mosaicism, and what parameter(s) would likely determine the percentages and distributions of X0 cells?
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Key Concepts
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Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division, leading to gametes with an abnormal number of chromosomes. In the context of Turner syndrome, nondisjunction can result in the loss of an X chromosome, leading to the 45,X karyotype. This genetic anomaly can occur during meiosis in the formation of eggs or sperm, contributing to the development of Turner syndrome in offspring.
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Allopolyploidy
Mosaicism
Mosaicism refers to the presence of two or more genetically different cell lines within the same individual, resulting from mitotic errors after fertilization. In cases of mosaic Turner syndrome, some cells may have the normal two X chromosomes (46,XX), while others may have only one X chromosome (45,X). This condition can lead to a range of phenotypic expressions, often resulting in milder symptoms compared to individuals with complete Turner syndrome.
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Genetics of Development
Mitotic Events
Mitotic events are the processes of cell division that result in the replication and distribution of chromosomes to daughter cells. In the context of mosaic Turner syndrome, errors during mitosis can lead to the loss of an X chromosome in some cells, creating a mosaic pattern. The percentages and distributions of X0 cells are influenced by factors such as the timing of the mitotic error and the specific tissues involved, which can vary throughout development.
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