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Understanding Chromosome Staining, Structure, and Abnormalities in Humans

Explore the world of karyotype analysis, chromosome staining techniques, and chromosomal abnormalities in humans. Learn about the structure of metaphase chromosome spreads, different banding techniques, centromere positions, and various chromosomal abnormalities such as euploidy, aneuploidy, trisomy, monosomy, and translocations.

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Understanding Chromosome Staining, Structure, and Abnormalities in Humans

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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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