Karyotype Analysis

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Karyotype Analysis

• Chromosome staining structure
• Chromosomal abnormalities in humans

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A. Chromosome Staining Structure

• Metaphase chromosome spread
• Staining techniques
• G-banding
• R-banding
• Q-banding

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A. Chromosome Staining Structure

• Centromere Position
• Metacentric
• Submetacentric
• Acrocentric P q arms
• Telocentric
• Centromere telomere structures

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B. Chromosomal Abnormalities

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

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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)