Human Chromosomes : Structure, Behavior, Effects

This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar­ yotes. Because my own background includes plant and animal cytoge­ netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe­ nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen­ sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs. Front Matter....Pages i-xv Past and Future of Human Cytogenetics....Pages 1-10 Structure of the Eukaryotic Chromosome and the Karyotype....Pages 11-23 Mitotic Cycle and Chromosome Reproduction....Pages 24-29 Modifications of Mitosis....Pages 30-38 Methods in Human Cytogenetics....Pages 39-49 Longitudinal Differentiation of Eukaryotic Chromosomes....Pages 50-60 Chromosome Structural Aberrations....Pages 61-72 Causes of Chromosome Breaks....Pages 73-82 The Main Features of Meiosis....Pages 83-93 Details of Meiosis....Pages 94-103 Meiotic Abnormalities....Pages 104-111 Human Sex Chromosomes....Pages 112-124 Sex Chromosome Abnormalities....Pages 125-135 Numerically Abnormal Chromosome Constitutions in Man....Pages 136-149 Structurally Abnormal Human Autosomes....Pages 150-166 Robertsonian Translocations....Pages 167-177 Reciprocal Translocations....Pages 178-193 Chromosomes and Cancer....Pages 194-208 Mapping of Human Chromosomes....Pages 209-218 Back Matter....Pages 219-235