A Saga of Human Chromosomology: Five Decades of Progress in Human Cytogenetics

Human cytogenetics has a long checkered history of more than five decades. Starting from 1956, when the exact number of chromosome complement in the human genome, as 46 was established irrevocably, it became basic but empowering information in the diagnosis of human genetic disorders and/or syndromes. Since then, the field of human cytogenetics has advanced its scope, not only in understanding the link between chromosomal defects and diseases, but also entered the era of genomics and epigenomics, providing insight into molecular basis of complex diseases and evolution. Various developments in the field of human cytogenetics, from pre-banding era to post-sequencing era are presented in this review.