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 Rearrangements: Deletions
1:50 minutes
Problem 32a
Textbook Question
Textbook QuestionA healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. Do the karyotypes of the parents help explain the occurrence of the three previous spontaneous abortions? Explain.
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Key Concepts
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Karyotype Analysis
Karyotype analysis is a laboratory technique that examines the number and structure of chromosomes in an individual's cells. It can identify chromosomal abnormalities, such as deletions, duplications, or translocations, which may lead to genetic disorders or reproductive issues. In this case, analyzing the karyotypes of the parents and child can reveal whether chromosomal abnormalities contributed to the spontaneous abortions.
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Cri-du-chat Syndrome
Cri-du-chat syndrome is a genetic disorder caused by a deletion of a portion of chromosome 5, leading to developmental delays, distinctive facial features, and a characteristic high-pitched cry. Understanding this syndrome is crucial as it may indicate underlying genetic issues in the parents that could also relate to their history of spontaneous abortions, potentially due to chromosomal abnormalities.
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Spontaneous Abortion and Genetic Factors
Spontaneous abortion, or miscarriage, often occurs due to genetic abnormalities in the embryo, which can arise from chromosomal issues in the parents. Factors such as balanced translocations or other chromosomal rearrangements can lead to embryos with unviable genetic combinations, resulting in pregnancy loss. Analyzing the parents' karyotypes may reveal such genetic factors that could explain their history of miscarriages.
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