Nowe techniki kariotypowania molekularnego przydatne w rozpoznawaniu mikroaberracji chromosomów u dzieci z zespołami wad, opóźnieniem psychoruchowym i niepełnosprawnością intelektualną

Abstract Precise cytogenetic diagnostics ( e.g. FISH) in patients harboring chromosomal microaberrations is difficult, mostly due to a manifestation of similar clinical symptoms. Possible cost of the diagnosis could be increased to an unacceptable extent which results in resignation from further analyses. However these patients might account for the large number of people in genetic counselors’ offices; therefore they demand precisely anomaly-oriented further diagnostics. These problems could be usually solved by introduction of molecular karyotyping techniques ( e.g. Real-time PCR, multiplex ligation-dependent probe amplification, BACs-on-Beads™), which allow detection of different chromosomal microaberrations in a single DNA sample required for final diagnosis of genetic syndrome, and thus seem to be very useful in patients suspected of harboring such an aberration.