Innovative Solutions in Cytogenetics

Chromsome Inversion

Reversal of orientation of DNA within a chromosome

• Evidence suggests that many inversions are involved in cancer.
• Only a small number have been found.
• The problem is there is not a good way to detect them, especially small inversions.

Chromosome rearrangements have been associated with a variety of disease processes like cancer, as well as a number of genetic abnormalities that underlie neurological and developmental disorders including autism.  Chromosome rearrangements also result from exposure to external agents like ionizing radiation. 

KromaTiD’s proprietary technology opens the door to discovery and to diagnosis of new alterations, particularly those involving rearrangements within chromosomes referred to as inversions, which up until now have been extremely difficult, or impossible, to detect.  An inversion represents a reversal of the orientation of the DNA within a chromosome.  In other words, an inversion is simply a broken piece of DNA that flips around before rejoining back into the chromosome (see illustration). Using KromaTiD’s chromatid painting, an inversion will appear as a fluorescent spot that jumps from one side (one chromatid) to the other, providing an easily identifiable “signature” of the rearrangement and greatly improving the resolution of their detection.