Abstract: The realm of medical imaging has always been fascinating because of its capability to yield visual clinical information about the human body. It was found that genetic information carried in the chromosomes also carries information about certain clinical abnormalities or diseases. Medical imaging and cytogenetics, when working in conjunction give us a valuable diagnostic avenue. This study is expected to help both the layman and the professional by providing them a good insight into this fascinating interdisciplinary area. Further, this study will help to understand the promising role of medical imaging in the field of human cytogenetics and disease diagnosis.