[Comprehensive analysis of changes in critical chromosomal regions and the development of DNA-diagnosis protocols]

A number of genetic syndromes and cancer are caused by chromosomal microstructural rearrangements. It is sometimes impossible to detect this pathology microscopically. A complex of molecular methods makes it possible to detect subchromosomal deletions, point mutations, and functional anomalies on the respective genes, which cause a disease. Achievements of comprehensive analysis have been demonstrated in cases of some well-known diseases, the Prader-Willi syndrome, Engelmann's syndrome, the Martin-Bell syndrome, hereditary multiple exostotic chondrodysplasia, and retinoblastoma. DNA-diagnosis protocols are the result of this study.