Introduction to Clinical Cytogenetics: Lecture 1

The Introduction to Clinical Cytogenetics course is designed to provide a broad background in the study of chromosome structure, function, and variation, and how this knowledge is applied to clinical testing. This lecture will cover basic biology concepts, including cell division, gametogenesis, and genomic imprinting, as well as common cytogenetic terms such as mosaicism, chimerism, among others. The foundations of karyotype testing will be presented, as well as the nomenclature used to describe chromosomes and their abnormalities.

Lecture Presenter
Cinthya J. Zepeda Mendoza, PhD
Cinthya J. Zepeda Mendoza, PhD
Medical Director, Cytogenomics, ARUP Laboratories
Assistant Professor, University of Utah School of Medicine

Cinthya J. Zepeda Mendoza is a medical director of cytogenomics at ARUP Laboratories and an assistant professor at the University of Utah. She received her doctorate degree in genetics and molecular biology from the Watson School of Biological Sciences. Following graduation, she completed a post-doctoral fellowship in human genetics and cytogenetics at Brigham and Women’s Hospital at Harvard Medical School. Then then finished a fellowship in laboratory genetics and genomics at Mayo Clinic. Cinthya is a member of the American Society of Human Genetics and the Association for Molecular Pathology. She is the recipient of the Student Travel Award for the American Cytogenomics Conference and the Gonzalo-Rio Arronte Fellowship from the Watson School of Biological Sciences.

Objectives

After this presentation, participants will be able to:

List the major applications of cytogenetic chromosome analyses in the clinic
Describe chromosome abnormalities using cytogenetic terms such as aneuploidy, mosaicism, and chimerism
List the steps involved in the creation and analysis of a human karyotype