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Karyotype Analysis

Karyotype Analysis. Chromosome staining & structure Chromosomal abnormalities in humans. A. Chromosome Staining & Structure. Metaphase chromosome spread Staining techniques G-banding R-banding Q-banding. A. Chromosome Staining & Structure. Centromere Position Metacentric

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Karyotype Analysis

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  1. Karyotype Analysis • Chromosome staining & structure • Chromosomal abnormalities in humans

  2. A. Chromosome Staining & Structure • Metaphase chromosome spread • Staining techniques • G-banding • R-banding • Q-banding

  3. A. Chromosome Staining & Structure • Centromere Position • Metacentric • Submetacentric • Acrocentric; P & q arms • Telocentric • Centromere & telomere structures

  4. B. Chromosomal Abnormalities • Euploidy vs. aneuploidy • Nondisjunction • Monosomy • Turner syndrome (45,XO) • Cri-du-chat (deletion or partial monosomy); 46,-5p

  5. B. Chromosomal Abnormalities • Trisomy • Kleinfelter syndrome (47, XXY) • Trisomy Down syndrome (47, +21) • Patau syndrome (47, +13) • Edwards syndrome (47, +18) • Translocation • Translocation (familial) Down syndrome (45, 14/21 D/G)

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