Subtelomeric fluorescence in situ hybridization in clinical cytogenetics: results of analysis of Lithuanian patients

Anotacija

Subtelomeric fluorescence in situ hybridization is one of the most useful methods in clinical cytogenetics. Usually, subtelomeric FISH is used for detection of subtelomeric rearrangements in patients with intellectual disability. In parallel with detection of subtelomeric deletions / duplications, we have applied subtelomeric FISH in detection or confirmation of different types of chromosome rearrangements: ring chromosomes, balanced translocations, recommbinat chromosomes, isochromosomes, mosaics. The analysis has been performed using the set of ToTelVysionTM subtelomeric FISH probes, Nikon Eclipse 80i epifluorescence microscope and LUCIAv1 software. Novel application of subtelomeric FISH indicates this method as a useful, precise and rapid way to diagnose the cytogenetic rearrangements. Keywords: subtelomeres, fluorescence in situ hybridization, intellectual disability, probe, chromosome rearrangements