Human Cytogenetics Clinical Cytogenetics

This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.

Human Cytogenetics: Clinical Cytogenetics, Volume II presents the general theoretical principles and clinical aspects of cytogenetics, a branch of genetics that deals specifically with the study of the chromosomes. The volume focuses on the clinical cytogenetics of human. It discusses the sex chromosomes and their abnormalities and the abnormalities of sexual development and differentiation; mechanism of sex determination in mammals; major autosomal abnormalities found in human populations; and chromosome abnormalities in relation to human pregnancy wastage and chromosome changes in neoplasia. The book will be a great reference book for geneticists, cytogeneticists, pathologists, clinicians, and medical students.

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.

The advent of molecular technologies has lead to a rapid acceleration in the cytogenetic study of malignancy and acquired abnormalities. As well as having a chapter devoted to molecular technologies (FISH, PRINS, and CGH), molecular methodology is emphasized in all chapters, for example the role of CGH in solid tumour cytogenetics. Classical techniques are not forgotten, with a detailed description of the preparation and analysis of chromosomes from bone marrow and leukaemic blood. This is followed by three chapters on the specific methodology for the cytogenetic study of myeloid leukaemia, acute lymphoblastic leukaemia, and lymphomas and lymphoproliferative disorders. Also covered are chromosome instability syndromes, mutagen-induced chromosome damage in lymphocytes and the role of cytogenetics in the assessment of haematological disorders. This book will be invaluable to any scientists using cytogenetics to study malignancy and along with its sister volume Human Cytogenetics: Constitutional Analysis will be an essential purchase for any cytogenetics laboratory. The volumes are available individually or as a set.

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.