Introduction to Cytogenetics: Part 2

 

This two-part series provides 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 October 26, 2020

Lecture Presenter

Erica Andersen, PhD, FACMG

Erica Andersen, PhD, FACMG

Associate Professor
University of Utah School of Medicine
Section Chief: Cytogenetics and Genomic Microarray
ARUP Laboratories

Dr. Erica Andersen is an Associate Professor of Pathology at the University of Utah and Section Chief of the Cytogenetics and Genomic Microarray Laboratories at ARUP Laboratories in Salt Lake City, Utah. She received a PhD in Genetics from the University of Wisconsin-Madison and completed a Clinical Cytogenetics fellowship at ARUP Laboratories and 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 research and professional interests include improving diagnostic and interpretative tools for cytogenetic and genomic testing, including copy number variant interpretation. She is an active member of the Clinical Genome Resource (ClinGen) and has published novel genetic findings in hereditary disease and in rare hematologic and lymphoid tumors.

Objectives

After this presentation, participants will be able to:

  • List common structural chromosome abnormalities and describe them using standard karyotypic nomenclature
  • Describe Robertsonian translocations and their association with aneuploidies and UPD
  • Recognize the mechanisms leading to unbalanced translocations and the formation of recombinant chromosomes
  • Explain the types of chromosomal abnormalities that involve oncogenes and tumor suppressor genes
  • Compare and contrast methodologies used for detection of different cytogenetic abnormalities

Sponsored by:

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