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
2:49 minutes
Problem 29
Textbook Question
Textbook QuestionA 3-year-old child exhibited some early indication of Turner syndrome, which results from a 45,X chromosome composition. Karyotypic analysis demonstrated two cell types: 46,XX (normal) and 45,X. Propose a mechanism for the origin of this mosaicism.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Turner Syndrome
Turner syndrome is a genetic condition that occurs in females when one of the X chromosomes is missing or partially missing, resulting in a 45,X karyotype. This condition can lead to various developmental issues, including short stature, delayed puberty, and infertility. The presence of a normal 46,XX cell line alongside the 45,X line indicates a mosaic pattern, where some cells have the typical chromosome complement while others do not.
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Mosaicism
Mosaicism refers to the presence of two or more genetically different cell lines within the same individual, resulting from a mutation or chromosomal abnormality that occurs during early cell division. In the case of Turner syndrome, mosaicism can arise when a fertilized egg undergoes an error in cell division, leading to some cells with the normal 46,XX configuration and others with the 45,X configuration. This phenomenon can influence the severity and range of symptoms experienced by the individual.
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Karyotypic Analysis
Karyotypic analysis is a laboratory technique used to examine the number and structure of chromosomes in an individual's cells. This analysis can identify chromosomal abnormalities, such as aneuploidy or structural rearrangements, which are crucial for diagnosing genetic conditions like Turner syndrome. In this case, the karyotype revealed both the normal 46,XX and the abnormal 45,X cell lines, providing insight into the child's genetic makeup and the mechanism behind the observed mosaicism.
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