Introduction to Clinical Cytogenetics: Lecture 2


The Introduction to Clinical Cytogenetics lecture 2 will explore the many forms of chromosome structural rearrangements observed in cytogenetic studies, their nomenclature notation, and their relationship with health and disease in both the constitutional and cancer settings. Advanced concepts in oncology karyotype nomenclature will be presented to facilitate the recognition of tumor clonal diversity and complex karyotype interpretation.

Originally published on August 30, 2021

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.


After this presentation, participants will be able to:

  • Describe the major classes of chromosome structural rearrangements in humans
  • Identify neoplastic subclonal karyotypic complexity from the ISCN nomenclature
  • Discuss the implications of balanced and unbalanced chromosome structural rearrangements in heredity and cancer

Sponsored by:

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