An opportune life: 50 years in human cytogenetics

Abstract

This article is one person's view of human cytogenetics over the past 50 years. The flowering of human cytogenetics led the way to the establishment of clinical genetics as one of the most important developments in medicine in the twentieth century. The article is written from the viewpoint of a scientist who never tired of analyzing the images of dividing cells on the light microscope and interpreting the wealth of information contained in them.

Keywords: Down syndrome; Klinefelter syndrome; XYY males; chromosomes; fragile X; hydatidiform moles; morbidity and mortality in the chromosomally abnormal; mosaicism; population studies; sex determination; spontaneous abortions; structural chromosome abnormalities.