Human Chromosomes

"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 eukary­ otes. Because my own background includes plant and animal cytogenet­ ics, many of the examples are taken from organisms other than the human. 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 phenomena 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 above paragraph from the Preface of the first edition of this book also fits the present edition. However, so much has happened in five years in cytogenetics that-apart from a couple of pages here and there-the whole book has been rewritten and nine new chapters have been added. The system used in the first edition to cite, whenever possible, the latest and/or the most comprehensive review rather than the original publica­ tions has been followed here also. Not only would complete literature citations increase the size of the book too much, but many readers have expressed satisfaction with the referencing method used here.

I. Past and Future of Human Cytogenetics. - II. Structure of the Eukaryotic Chromosome and the Karyotype. - III. Mitotic Cycle and Chromosome Reproduction. - IV. Methods of Human Cytogenetics. - V. Longitudinal Differentiation of Eukaryotic Chromosomes. - VI. Fine Structure and Function of the Eukaryotic Chromosome. - VII. Chromosome Structural Aberrations. - VIII. Causes of Chromosome Breaks. - IX. Chromosome Breakage Syndromes. - X. Sister Chromatid Exchanges and Mitotic Crossing-Over. - XI. Cell Fusion, Prematurely Condensed Chromosomes, and the Origin of Allocyclic Chromosomes. - XII. Modifications of Mitosis. - XIII. Somatic Cell Cytogenetics. - XIV. Main Features of Meiosis. - XV. Details of Meiosis. - XVI. Meiotic Abnormalities. - XVII. Human Sex Determination and the Y Chromosome. - XVIII. Human X Chromosome. - XIX. Numerical Sex Chromosome Abnormalities. - XX. Structurally Abnormal X Chromosomes. - XXI. Numerically Abnormal Chromosome Constitutions in Humans. - XXII. Structurally Abnormal Human Autosomes. - XXIII. Reciprocal Translocations. - XXIV. Robertsonian Translocations. - XXV. Double Minutes and Homogeneously Stained Regions. - XXVI. Chromosomes and Oncogenes. - XXVII. Chromosomal Development of Cancer. - XXVIII. Mapping of Human Chromosomes. - Author Index.