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Mistakes in Meiosis What are Chromosomes? What are chromosomes? •Human cell = >6 billion nucleotide base pairs (~2 meters) •Wrapped around protein = chromatin •DNA/protein = chromosome 3 How many chromosomes do humans have? • Humans are diploid (2n) • Two of each chromosome, one from each parent. • n = 23 unique chromosomes (haploid Curly #) hair Strait hair allele allele • 2(n) = 46 total chromosomes • The two copies of each chromosome in human cells are homologous • Different versions - same genes in same locations but different DNA sequence. • Different versions (alleles) of a gene may promote different traits (e.g. hair type). 4 How do cells get the right number of chromosomes? DNA DNA DNA DNA DNA DNA DNA Cell Division 1. Duplicate cell components • Organelles • Cytoplasm • Chromosomes 2. Separate the material into two daughter cells 5 Correct Cycle Meiosis Cells divide 2x Mitosis Cells divide 1x 2n 2n 2n 2n n n Diploid Cells n n n n Haploid Cells 6 Nondisjunction • The failure of homologous chromosomes to separate properly during meiosis. What should happen Nondisjunction The results • If the abnormal gametes is fertilized the results Polyploidy • the condition where cells have multiple sets of chromosomes • usually 3-4 sets • Most often found in plants, rare in animals Examples of Polyploidy Diploid & tetraploid many plants Octoploidy strawberries Triploid seedless watermelon Trisomy • The zygote has an extra chromosome • Organisms with an extra chromosome sometimes survive Examples of trisomy in humans • Trisomy 21: Downs Syndrome • Trisomy 18: Edwards syndrome • Trisomy 13: Patau syndrome • XXY: Klinefelter's syndrome • Trisomy 1: rare • Trisomy 2: associated with loss of pregnancy • Trisomy 3: lethal • Trisomy 4: lethal • Trisomy 5: lethal • Trisomy 6: rare, no heath concerns in know cases (six total cases) • Trisomy 7: never reported in live birth childern • Trisomy 8: • Trisomy 9: • Trisomy 10: lethal • Trisomy 11: • Trisomy 12:majority have normal outcomes • Trisomy 13: Patau syndrome 0.03 • • • • • • • • • • • • • Trisomy 14: Trisomy 15: lethal Trisomy 16: lethal Trisomy 17: not reported Trisomy 18: Edwards syndrome .2% Trisomy 19: Trisomy 20: not viable Trisomy 21: Downs Syndrome Trisomy 22: Trisomy 23: Trisomy x: XXY: normal development, slightly taller, decreased sperm quality Trisomy X: super female syndrome Monosomy • The zygote is lacking a chromosome • Organisms lacking one or more chromosomes rarely survive Examples of monosomy in humans Monosomy X: Turners Syndrome Human Karyotype