[Contribution of molecular cytogenetics in the diagnosis of chromosomal abnormalities]

Molecular cytogenetic approaches based on fluorescence in situ hybridization (FISH) with chromosome-specific probes have been increased in recent years. They become a powerful tool for chromosomal diagnosis in prenatal, constitutional and cancers genetic disorders. In fact, various procedures are now available to rapid identification of numerical and structural chromosome aberrations that escape to conventional chromosome banding analysis. Here, contribution of molecular cytogenetic approaches for diagnosis of disease related chromosomal changes are presented and discussed.