Title of article :
Educational Case: Fragile X Syndrome with Size Mosaicism
Author/Authors :
Geisler, Daniel 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 :
pathology competencies , diagnostic medicine , genomics , chromosomal disorders , testing for genetic disorders , mutations , developmental abnormality , mosaicism , inherited diseases
Journal title :
Academic Pathology
