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Updated: Apr 16 2021


  • Overview
      • examine chromosomal structure
    • Process
      • mitotic cells in metaphase selected from actively dividing cell population
        • white cells, bone marrow, placenta, amnion
        • when chromosomes are most condensed
      • chromosomes are stained with or without G-banding
        • G-banding involves partial digestion with trypsin
          • leaves alternating dark and white bands
        • staining with Giemsa or other stains which have affinity for DNA
      • spectral karyotyping
        • 5 different fluorescent probes are added
        • special digital image processing colors each chromosomes differently
      • chromosomes are ordered, numbered based on unique properties of all 23 chromosomes
    • Clinical use
      • can analyze whether a gross chromosomal abnormality exists
        • ex.) trisomy, monosomy
      • used commonly for prenatal diagnosis via chorionic or amniotic sampling
      • spectral karyotyping can also diagnose translocations, inversions, or deletions of specific chromosomal segments if the change is large enough
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