A 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. Diagram the pairing of the abnormal chromosomes.
Table of contents
- 1. Introduction to Genetics42m
- 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
Multiple Choice
When a chromosome undergoes a deletion mutation, what happens to the genetic information in the deleted segment?
A
It is reversed in orientation but remains on the same chromosome.
B
It is duplicated, increasing the number of copies of the deleted segment.
C
It is moved to a different (nonhomologous) chromosome without changing copy number.
D
It is lost from the chromosome, potentially removing one or more genes.
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Verified step by step guidance1
Understand what a deletion mutation is: it involves the removal of a segment of a chromosome, which means a portion of the genetic material is physically lost.
Recognize that when a segment is deleted, the genetic information contained in that segment is no longer present on the chromosome; it does not get reversed, duplicated, or moved elsewhere.
Recall that other types of chromosomal mutations include inversions (where a segment is reversed), duplications (where a segment is copied), and translocations (where a segment moves to a different chromosome), but these are distinct from deletions.
Conclude that in a deletion mutation, the genetic information in the deleted segment is lost, which can result in the loss of one or more genes and potentially affect the organism's phenotype.
Summarize that the key consequence of a deletion mutation is the permanent loss of genetic material from the chromosome.
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