One of the major advances in medicine where Radiology is able to be of considerable aid is in the field of Cytogenetics. Parallel with the development of Cytogenetics a group of radiologists described radiological signs associated with chromosomal abnormalities, which became the basis of Radio Cytogenetics. In the last few years radiocytogenetics has provided a list of various signs commonly noted in diseases with chromosomal abnormalities. In spite of the adjuvant and secondary role of radiology, its techniques help in the early diagnosis and genetic counseling. In the final assessment the diagnosis of any chromosomal anomaly needs to depend on a combination of clinical, radiological and genetic features.