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6b chromosome mutations
- 2. Chromosome Mutations ●Mutations can occur at the gene by adding deleting or substituting one or more letters from the genetic code ●Mutations can also occur on a larger scale at the chromosome which can affect thousands of genes ●Chromosome mutations can involve a change in chromosome structure or number ●Chromosome mutations usually occur during meiosis
- 3. Structural Chromosome Mutations ● These mutations occur when pieces of the chromosome are broken off or extra pieces are added ● Usually occur during the process of crossing over in meiosis
- 4. Portion of the chromosome is lost Portion of a homologous chromosome is gained Segment of chromosome is reversed Segment of non-homologous chromosome is added Deletion disorder: Cri du chat syndrome
- 5. Chromosome Number Mutations ●Chromosomes do not split correctly during meiosis – Nondisjunction ●Resulting gametes (egg/sperm) have more or less that the normal (n = haploid) number of chromosomes
- 9. Genetic Disorders ●Geneticists can prepare a profile of a persons chromosomes called a karyotype ●Understanding which chromosomes have been affected by mutation allows doctors to diagnose and treat genetic disorders
- 10. Karyotyping
- 12. Diagnose this patient... Male with extra 21st chromosome = Trisomy 21: Down Syndrome
- 14. Diagnose this patient... Male with an extra X chromosome = Kleinfelter's Syndrome
- 16. Diagnose this patient... Female with only one X chromosome = Turner Syndrome
- 18. Diagnose this patient... Female with extra X chromosome = Triple X Syndrome