Introduction to Cytogenetics


This lecture is an introduction to the science of cytogenetics. Cytogenetics is the study of chromosomes, genomic structure, function and variation, and the role of these aspects in human disease and heredity. Explanations will include the basics of technologies of chromosome analysis and karyotyping.

Originally published on June 6, 2018

Lecture Presenter

Erica F. Andersen, PhD, FACMG

Erica F. Andersen, PhD, FACMG

Medical Director, Cytogenetics and Genomic Microarray
ARUP Laboratories
Assistant Professor of Pathology
University of Utah School of Medicine

Dr. Andersen is an assistant professor of pathology at the University of Utah School of Medicine. She received her PhD in genetics from the University of Wisconsin–Madison and completed a clinical cytogenetics fellowship at the University of Utah. She is board certified by the American Board of Medical Genetics and Genomics and is a fellow of the American College of Medical Genetics and Genomics. Dr. Andersen’s interests include both constitutional and oncology cytogenetics. She is an active member of the Clinical Genome Resource (ClinGen) group’s efforts to improve constitutional structural variant interpretation, and her oncology research projects include improving the diagnosis and monitoring for myelodysplastic syndromes and understanding the genetic etiology of rare histiocytic and dendritic cell neoplasms.


After this presentation, participants will be able to:

  • Describe DNA and chromosomal structure and classification
  • Explain the mitotic and meiotic cell cycles
  • Describe mechanisms leading to aberrant ploidy
  • List common numerical chromosome abnormalities and describe them using standard karyotypic nomenclature

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories