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
- ring and marker chromosomes
- Please note that karyotyping technique is not able to detected submicroscopic abnormalities and low-level mosaicism (<10%).