The chromosome: Cytogenetic analysis and its clinical application

Chromosomes are highly structured, dynamic complexes of DNA and protein. Th e human genome consists of 46 chromosomes (22 paired autosomes and 2 sex ch romosomes). Cytogenetic analysis provides a means to identify, as well as d escribe, chromosomes and disorder-related aberrations. The purpose of this article is to 1) introduce chromosome structure and alterations, 2) describ e the technical fundamentals of cytogenetic analysis, and 3) provide a brie f overview of the clinical applications of this technology. (C) 2000 Americ an Association of Oral and Maxillofacial Surgeons.