The recent considerable expansion in our understanding of human chromosome pathology in medicine has been reflected in the production of some excellent textbooks from the “how to” of the encyclopaedic AGT Cytogenetics Manual to the more discursive but invaluable second edition of “Gardner and Sutherland”. This multi-authored book, entitled, The Principles of Clinical Cytogenetics, aims to provide a comprehensive description of the basic concepts of clinical cytogenetics in a single volume.

This book is divided into four sections: “Basic Concepts and Background”, “Examining and Analysing Chromosomes”, “Clinical Cytogenetics”, and “Beyond Chromosomes”. The first chapter, “Basic Concepts and Background”, gets off to a good start with an entertaining history of clinical cytogenetics. This includes an account of Painter's understandable indecision in the 1920s as to whether to plump for 46 or 48 as the diploid chromosome number for man and a reminder that terms like “super-female” were common currency in papers of the late 1950s. “Examining and Analysing Chromosomes” contains chapters on “Basic Laboratory Procedures”, “Quality Control and Assurance”, and “Automation” (reflecting one of the editor's own fields of interest). Disappointingly, the issue of laboratory safety and its management is dealt with in a single paragraph. Mention is made of approaches to Quality Assurance/Quality Control (QA/QC) outside the United States but only a brief overview is provided. Examination of different international approaches to QA/QC in more detail would have been useful.

“Clinical Cytogenetics” is the strongest section in the book with comprehensive, well referenced chapters on constitutional, prenatal, and cancer clinical cytogenetics. The reviewer was disappointed that there was little or no discussion of the role of cytogenetic analysis in the diagnosis of “Breakage” syndromes. Partly because of the rarity of these disorders, this topic would benefit from a review of the different procedures (often involving extremely time consuming methods) used by laboratories. “Beyond Chromosomes” includes chapters on “Fragile X”, “Imprinting”, “Genetic Counselling”, and on “FISH”. The latter chapter is let down by some cramped, poor quality black and white figures illustrating techniques and the near universal reliance on a commercial company for illustrations for the text.

Whether this volume realises the editors' ambition to transcend the role of a reference work or a “how to” manual is open to question. There is, for instance, little reflection or discussion as to how laboratories should regulate or define the scope of their workload (for example, with respect to fragile X testing) in consultation with clinicians. This book is, however, reasonably priced and does provide an overview of many of the topics which form part of the working knowledge base of clinical cytogeneticists.