Educational Case: Cytogenetics

Acad Pathol. 2020 Jul 6;7:2374289520935588. doi: 10.1177/2374289520935588. eCollection Jan-Dec 2020.


The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see

Keywords: chromosomal abnormalities; chromosomal disorders; cytogenetics; diagnostic medicine; genetic mechanisms; genomics; pathology competencies; testing for genetic disorders.