Human cytogenetics at Johns Hopkins Hospital, 1959–1962

Abstract

An account is given of the introduction of human cytogenetics to the Division of Medical Genetics at Johns Hopkins Hospital, and the first 3 years' work of the chromosome diagnostic laboratory that was established at the time. Research on human sex chromosome disorders, including novel discoveries in the Turner and Klinefelter syndromes, is described together with original observations on chromosome behavior at mitosis. It is written in celebration of the centenary of the birth of Victor McKusick, the acknowledged father of Medical Genetics, who established the Division and had the foresight to ensure that it included the investigation of human chromosomes.

Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction

“…The article also notes McKusick's early appreciation for the important place that genetic counselors hold as part of the genetics team because of their understanding of family dynamics and their superior communication skills. In the final paper in this section, Ferguson‐Smith (2021) writes an account of the introduction of human cytogenetics to medical genetics at Johns Hopkins Hospital. In this article, he notes McKusick's foresight to include investigation of human chromosomes in the Division of Medical Genetics at Johns Hopkins and his commitment to the development of the cytogenetics laboratory, including initially providing Ferguson‐Smith with a microscope to study chromosome preparations to his later provision of resources in the form of research assistants to help with the volume of cytogenetics work.…”