Educational Case: Fragile X Syndrome with Size Mosaicism

Daniel Geisler

doi:10.1177/2374289519877550

Educational Case: Fragile X Syndrome with Size Mosaicism

Acad Pathol. 2019 Sep 29:6:2374289519877550. doi: 10.1177/2374289519877550. eCollection 2019 Jan-Dec.

Author

Daniel Geisler¹

Affiliation

¹ Department of Pathology, University of Pittsburgh Medical Center, PA, USA.

Abstract

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 http://journals.sagepub.com/doi/10.1177/2374289517715040.

Keywords: chromosomal disorders; developmental abnormality; diagnostic medicine; genomics; inherited diseases; mosaicism; mutations; pathology competencies; testing for genetic disorders.