History of clinical cytogenetics

Abstract

The normal diploid number of chromosomes in man was reported in 1956. The first constitutional chromosome abnormalities were discovered 3 years later, and the first association between an abnormal karyotype and cancer was reported a year after that. However, it was not until the late 1960s and early 1970s, when banding methods facilitated definitive identification of each chromosome pair, that the field of clinical cytogenetics truly emerged. In the decades that have followed, chromosome analysis, either through the light microscope, via fluorescence in situ hybridization, or by microarray, has become an integral part of the diagnosis and/or prognosis of an ever-increasing list of syndromes and neoplasms.