Fundamental aspects and the clinical application features of molecular cytogenetic analysis of chromosomal disorders (review)

Objective: identify the highly relevent molecular cytogenetic technologies for the analysis of chromosomal disorders aimed at robust diagnosis and monitoring of socially significant human diseases. Review methodology. The systematic review was performed on the PRISMA (Preferred reporting items for systematic reviews and meta-analyses) methodology applying the PubMed, eLibrary, Google Scholar, CyberLeninka databases. The search period was from 2000 to 2025. 50 sources were used to write the review. Conclusion. A review of scientific publications suggests a significant potential of the development of molecular genetic technologies and optical imaging methods to improve the quality of diagnostic laboratory assays. Analysis of studies focused on the chromosomal disorders determination revealed the emergence of new technologies (chromosomal microarray analysis, optical genome mapping) in the diagnosis of previously poorly studied hereditary diseases. Recent studies in the field of microscopic technology related to the development of high-resolution methods for direct luminescent visualization of molecular cytogenetic data, are aimed at the fundamental improve of the identification of predictors for numerous human chromosomal diseases. Modern developmental trends in the bioengineering and nanobiotechnology are aimed at designing specialized multicolor molecular probes and hybrid nano-sized labels, which increase time- and cost efficacy of chromosomal analysis, thus making it convinient for large-scale screening studies.