Elements of Medical Cytogenetics

Abstract

Chromosome is a combination of Greek words meaning colored (chrom) body (soma). Albeit that molecular methodologies have substantially taken over from classical cytogenetics, and providing a different view of the genetic material, the word chromosome will surely last forever. This chapter provides a very brief historical introduction, and a basic introduction to what chromosomes are, and the ways in which they can be abnormal. The distinction is made between disorders in which there is an excess (trisomy, duplication) of chromosome material, and those in which there is a deficiency (monosomy, deletion). Ethical questions are rehearsed that may arise in the context of the clinical management ..