Technically, karyotype analysis investigates the number and structure of the chromosomes in one cell during metaphase stage of cell division. The chromosomes can be stained with Quinacrine Mustard (QFQ-banding: Q-Bands by Fluorescence using Quinacrine) or with Giemsa dye, resulting in a well defined banding pattern that enables the identification of each chromosome.

Q-banding karyotyping allows to obtain the following information:

  • overview of the whole genome;
  • species identification;
  • validation of normal diploid karyotypes;
  • numerical abnormalities (aneuploidies, i.e. trisomy, monosomy etc.);
  • structural abnormalities (with an overall resulution of 10-15Mb)
  • duplications and deletions
  • balanced/unbalanced translocations
  • inversions
  • isochromosomes
  • ring and marker chromosomes
  • Please note that karyotyping technique is not able to detected submicroscopic abnormalities and low-level mosaicism (<10%).

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