Advances in human cytogenetics are largely due to innovations in molecular biology and instrumentation technology. Present form of molecular cytogenetics has matured into a multidisciplinary science that based heavily on molecular biology, bioinformatics and technological advances. The resolution has improved to the extent of single/few base pair/s and sensitivity by many folds. Most importantly, present cytogenetic advances have been freed from the dependence of cell culture. Present wave is now moving from microscope to DNA chips and/or sequencing for identification of submicroscopic chromosome alterations.