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Patterns of Chromosome Inheritance Chapter 24 Karyotyping Karyotype Size-ordered chart of the metaphase chromosomes of an individual cell Chromosomal aberration A mutation that is large enough to see under a light microscope Amniocentesis Chorionic villi sampling Normal male karyotype Down syndrome karyotype Changes in Chromosome Number Nondisjunction Result after fertilization: Trisomy Monosomy Nondisjunction in Meiosis I Nondisjunction in Meiosis II Down Syndrome Changes in Sex Chromosome Number Y chromosome-determines maleness. SRY gene produces a testis-determining factor Caused by non-disjunction Non-disjunction in Sex Chromosomes Y chromosome-determines maleness. Results of non-disjunction?: XXX XXY XYY X0 0Y Non-disjunction in Sex Chromosomes Turner Syndrome --XO Klinefelter Syndrome—XXY Poly-X Females---XXX Jacobs Syndrome---XYY Changes in Chromosome Structure Mutation– a permanent genetic change. Chromosome mutation--change in chromosome structure. Types: Inversion Translocation Deletion Duplication Deletion Duplication Translocation Inversion WHAT’S HAPPENING?? Sex-Linked Traits Traits controlled by genes on the X or Y chromosomes are sex-linked although most are unrelated to gender. An allele on the X chromosome that is in the region where the Y chromosome has no alleles will express even if recessive; it is termed X-linked. A female would have to have two recessive genes to express the trait; a male would only need one. X-Linked Alleles The key for an X-linked problem shows the allele attached to the X as in: XB = normal vision Xb = color blindness. Females with the genotype XBXb are carriers because they appear to be normal but each son has a 50% chance of being color blind depending on which allele the son receives. XbXb and XbY are both colorblind. Cross involving an X-linked allele X-linked recessive pedigree chart X-Linked Disorders Red-green color blindness Muscular dystrophy. Hemophilia. Chapter Summary Humans - 22 pairs
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