Hands down: Reflecting on the 50th anniversary of the description of Trisomy 21

Abstract

In July 1968, on the first day of my genetics fellowship, I presented myself to Leonard Atkins, MD, director of the Cytogenetics Laboratory at the Massachusetts General Hospital. He looked at me and simply asked, “Can you count?” In response to my affirmative nod, he pointed to the Zeiss photomicroscope on the laboratory table between us and said, “Start counting.” No preface or further explanation was necessary. By then, even the dullest recent medical school graduate knew that a variety of disorders might be identified or documented by showing an increase or decease in the number of chromosomes in a cultured cell: 45 was too few and 47 or more was too many. By then, it had already been 9 years since Jerome Lejeune established that Trisomy 21 accounts for Down syndrome.