Human Cytogenetics

The history of science is mostly written retrospec tively, a generation or two after the actual events being discussed. Science historians are now analyzing and evaluating the origins of evolutionary and genetical theory in the nineteenth century and a sort of "Darwin industry" seems to have grown up. A history of mammalian cytogenetics by one of the main participants is, hence, a very welcome change, since it has a vividness, an immediacy and a personal flavor which these scholarly tomes and the official biog raphies of scientists mostly lack. The life of the author, Chinese-born, T. C. Hsu, has been a romantic and color ful one, and he is himself a unique personality, so that his book is a very unusual blend of reminiscences, history of his special field (which has transformed human genetics) and wise comments on the mistakes made along the way. The best qualities of a very fine Chinese mind have contributed to Dr. Hsu's career, including this book. Those qualities (which seem to me especially Chinese) include a kind of transparent honesty, a very direct em pirical approach to problems and superb technical ability.

This volume was originally intended to be an English translation of the book MetllOden in der medizinischen Cytogenetik, published in 1970. Just about then, however, a number of new techniques were introduced in human cytogenetics and soon acquired the utmost importance, parti cularly in clinical diagnosis, so that the English edition had to be con siderably enlarged. As a result, there are now twelve chapters instead of eight, and two additional authors have been called upon, Dr. KRONE and Dr. SCHNEDL. In addition to the up-to-date presentation of con ventional methods of cell culture and techniques for the preparation and identification of human chromosomes, this text covers the various tech niques of producing banding patterns and applying them in chromo some identification. Further, it deals with the culture of amniotic fluid cells and gives instructions for handling tissue-culture cells for bio chemical analysis; it thus meets the ever-increasing requirements of a modern cell-culture laboratory. To paraphrase the aims of this book, we quote part of the preface to the German edition: "It was intended to collect the various methods so as to make them accessible for laboratory use. Furthermore, it is hoped that the reader faced with current research problems will be stimulated to modify and supplement the techniques described, instead of merely applying them automatically. In a rapidly developing field, some methods are still preliminary, and no final presentation seems possible.

Human Cytogenetics: Constitutional Analysis covers all basic aspects of human cytogenetic study other than malignancies and abnormalities. They are covered in a separate volume. Since the publication of the 2nd edition in 1992, there have been major advances in technology and the emphasis ofthis new edition is on the spectrum of technologies available to conventional and molecular cytogenetics. Perhaps the largest new development has been the transition of fluorescence in situ hybridization to an essential tool for all cytogenetecists and consequently its use in chromosome analysis iscovered in detail. Another important new technology to be described in detail is computerised image analysis. The conventional techniques have not been forgotten, with chapters on chromosome staining and banding techniques and meiotic studies. New authors have been brought in to take a fresh look atlymphocyte culture and prenatal diagnosis. As before, there is an introduction to human chromosomes, their analyses, and the application of cytogenetic investigations to clinical practice. There is also an appendix on health and safety concerns in the cytogenetics laboratory. This book will beinvaluable to any scientists using basic cytogenetics and along with its sister volume Human Cytogenetics: Malignancy and Acquired Abnormalities will be an essential purchase for any cytogenetics laboratory. The volumes are available individually or as a set.

This special issue focuses on the recent developments in the exciting and continuously progressing field of human multicolor fluorescence in situ hybridisation (mFISH), highlighting the advantages, applications and possible limitations of this technique. Today, mFISH assays are indispensable for the precise characterization of complex chromosome rearrangements and numerical chromosome aberrations. In a first, more technically oriented part, the main mFISH-techniques (M-FISH, SKY, COBRA) are reviewed and their applications described. In the second part, world experts in the field discuss the multitude of presently available techniques and present their latest findings based on the use of mFISH in tumor cytogenetics, clinical genetics and basic investigations. The most recent studies employing mFISH in the diagnosis of leukemia, lymphoma and solid tumors are included as are preimplantation, pre- and postnatal clinical genetic studies using interphase-mFISH probe sets, FISH-banding and DNA-array techniques. Since structurally rearranged marker chromosomes have implications for hereditary and acquired diseases, chromosomal breakpoints are characterized and evaluated. This unique, comprehensive and up-to-date volume will be a valuable resource for (molecular) cytogeneticists, genetic counsellors, cell biologists, geneticists, reproductive scientists, obstetricians, pediatricians, oncologists and hematologists.

Human Chromosomes: An Illustrated Introduction to Human Cytogenetics focuses on the processes, methodologies, and approaches involved in the study of human chromosomes. The publication first offers information on the cell and its activity, particularly noting that the cell is the basic unit that forms the organs and tissues of the human body. The differentiation of cells and the process of cell division are discussed. The text then focuses on the culture of human cells for the investigation of the chromosomes. The book elaborates on the identification of human chromosomes, including further methods of identification and the use of radioactive isotopes. The publication also ponders on the numerical changes in the karyotype, structural changes, and X chromosomes. Discussions focus on the processes of mitosis and meiosis, translocation, deletion, duplication, and ring formation, and the behavior, transformation, and characteristics of X chromosome. The text is a valuable reference for researchers interested in the study of human chromosomes.

Collating current research developments for the cytogeneticist in a pocket-sized compendium, this work presents data in an accessible, tabular format. References to key papers and reviews are provided throughout the text.