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[1] [2] Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. Micrographic karyogram of human male using Giemsa staining Schematic karyogram demonstrating the basic knowledge needed to read a karyotype
Spectral karyotyping (SKY) looks at the entire karyotype by using fluorescent labels and assigning a particular color to each chromosome. SKY is usually performed after conventional cytogenic techniques have already detected an abnormal chromosome. FISH analysis is then used to confirm the identity of the chromosome. [50]
Spectral karyotyping (SKY) and MFISH—the ratio labeling and simultaneous hybridization of a complete chromosomal set have similar drawbacks and little application outside of clinical studies. [21] Comparative genomics data including chromosome painting confirmed the substantial conservation of mammalian chromosomes. [36]
Spectral karyotyping is an image of colored chromosomes. Spectral karyotyping involves FISH using multiple forms of many types of probes with the result to see each chromosome labeled through its metaphase stage. This type of karyotyping is used specifically when seeking out chromosome arrangements.
Cytogenomics includes karyotyping and spectral (SKY) karyotyping (for mouse, human, and other species), fluorescent in situ hybridization mapping, transgenic insertion site mapping (G-to-FISH mapping) and clone labeling for FISH experiments.
The level of mosaicism that can be detected is dependent on the sensitivity and spatial resolution of the clones. At present, rearrangements present in approximately 50% of the cells is the detection limit. For the detection of such abnormalities, other techniques, such as SKY (Spectral karyotyping) or FISH have to still be used. [32]
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