An expert resource for medical professionals
Provided FREE as a service to women’s health

The Global Library of Women’s Medicine’s
Welfare of Women
Global Health Programme

An Educational Platform for

The global voice for women’s health

This chapter should be cited as follows:
Pergament, E, Glob. libr. women's med.,
(ISSN: 1756-2228) 2008; DOI 10.3843/GLOWM.10342
Under review - Update due 2021



Eugene Pergament, MD, PhD
Professor of Obstetrics and Gynecology, Northwestern University Medical School; Prentice Women's Hospital and Maternity Center, Chicago, Illinois


Cytogenetics is the branch of genetics that studies the structure and behavior of chromosomes and their relation to human disease and disease processes. During the past three decades, the importance of clinical cytogenetics to the practice of obstetrics and gynecology has dramatically increased because clinical cytogenetics has a direct effect on the diagnosis, management, and prevention of many disorders that are caused by chromosome aberrations. For many chromosome disorders, physicians face medicolegal responsibilities in the areas of counseling, screening, and diagnosis, and obstetricians and gynecologists therefore must have knowledge about the human chromosome constitution and be able to apply basic principles of chromosome behavior to clinical practice. This chapter reviews important concepts and developments in cytogenetics and highlights their applications in the practice of obstetrics and gynecology.