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
2:22 minutes
Problem 9
Textbook Question
Describe how nondisjunction in human female gametes can give rise to Klinefelter and Turner syndrome offspring following fertilization by a normal male gamete.
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1
Understand that nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division, which can occur during meiosis I or meiosis II in female gametes.
Recognize that Klinefelter syndrome (47,XXY) occurs when a male has an extra X chromosome, which can result from nondisjunction in the female gamete leading to an egg with two X chromosomes (XX). When fertilized by a normal male sperm (Y), the resulting zygote will have XXY.
Identify that Turner syndrome (45,X) occurs when a female has only one X chromosome. This can result from nondisjunction in the female gamete leading to an egg with no sex chromosome (O). When fertilized by a normal male sperm (X), the resulting zygote will have a single X chromosome.
Consider the stages of meiosis where nondisjunction can occur: in meiosis I, homologous chromosomes fail to separate, and in meiosis II, sister chromatids fail to separate. Both can lead to gametes with abnormal numbers of chromosomes.
Reflect on the implications of nondisjunction: it can lead to aneuploidy, a condition where the number of chromosomes is not the typical diploid number, resulting in genetic disorders such as Klinefelter and Turner syndromes.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division, specifically meiosis. In females, this can lead to gametes with an abnormal number of chromosomes. If such a gamete is involved in fertilization, it can result in offspring with chromosomal disorders, such as Klinefelter syndrome or Turner syndrome.
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Klinefelter Syndrome
Klinefelter syndrome is a genetic condition that occurs in males who have an extra X chromosome, resulting in a 47,XXY karyotype. This condition can arise when a normal male gamete fertilizes a female gamete that has undergone nondisjunction, leading to an extra X chromosome. Individuals with Klinefelter syndrome may experience various physical and developmental challenges, including infertility and learning difficulties.
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Turner Syndrome
Turner syndrome is a chromosomal disorder that affects females, characterized by the presence of only one X chromosome (45,X karyotype) due to nondisjunction in the female gamete. When a normal male gamete fertilizes a Turner syndrome egg, the resulting offspring will have a missing or incomplete second sex chromosome. This condition can lead to various developmental issues, including short stature and infertility.
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