This book, like the two previous editions, was written as an introduction to human cytogenetics, but it could also be used as a text for a general cytogenetics course, since chromosome structure and behavior are similar in all eukaryotes. Many examples in this book are from organisms other than humans, reflecting our combined backgrounds of molecular and bacterial genetics, and plant and animal cytogenetics. In the rapidly expanding field of human cytogenetics, certain subjects, for instance clinical and cancer cytogenetics, are now covered in recently published, thousand-page volumes. In this book, such subjects are presented only in outline. The enormous growth of information has also made the choice of topics and of examples to illustrate them even more arbitrary and subjective than in the previous editions. Apart from a few pages here and there, the text has been rewritten. Major parts, especially those on molecular matters, have been added. This book would not exist without the dedicated participation of Mrs. Barbara Susman. She has been involved in the project from the planning stages to the final proofreading. She has done the extensive literature research, designed most of the tables and illustrations, and edited and typed the text. For discussions and suggestions we are indebted to many colleagues. We wish especially to mention Drs. Lassi Alvesalo, Evelyn M. Kuhn, and Renata Laxova, who have critically read selected parts of the book, and Dr. Carter Denniston, who has read the whole text.

Inhalt

1. Origins and Directions of Human Cytogenetics.- The Dark Ages.- The Hypotonic Era.- The Trisomy Period.- Chromosome Banding Era.- Human Sex Chromosomes.- Evolution of Human Chromosomes.- Nomenclature of Human Chromosomes.- The Molecular Era.- Ultrastructure of Eukaryotic Chromosomes.- Functional Structure of Human Chromosomes.- Structure of Interphase Nuclei.- Somatic Cell Cytogenetics.- Sex Chromosomes and Sex Determination.- Mutagenesis Studies.- Chromosome Instability Syndromes.- Mapping of Human Chromosomes.- Chromosomes and Cancer.- Clinical Cytogenetics.- The Future of Human Cytogenetics.- References.- 2. Structure of the Eukaryotic Chromosome and the Karyotype.- Metaphase Chromosome.- Primary Constriction.- Secondary Constrictions.- Characterization of Metaphase Chromosomes.- Chromosome Number.- Chromosome Size.- Shape of Chromosomes.- DNA Content of Nuclei.- Human Chromosome Complement.- Banded Human Karyotype.- Euploid Chromosome Changes.- Aneuploid Chromosome Changes.- Structural Changes in Chromosomes.- References.- 3. Mitotic Cycle and Chromosome Reproduction.- Significance of Mitosis.- Interphase.- Prophase.- Prometaphase.- Metaphase.- Anaphase.- Telophase.- Nondisjunction and Loss of Chromosomes.- Mitotic Cycle.- Chromosome Replication.- References.- 4. Methods in Human Cytogenetics.- Direct Methods.- Tissue Culture Techniques.- Prenatal Studies.- Meiotic Studies.- Sex Chromatin Techniques.- Banding Techniques.- Prophase Banding.- Replication Studies.- Nomenclature of Human Chromosomes.- Quantitative Methods.- References.- 5. Molecular Methods.- Fragmentation of DNA.- Cloning.- Flow Cytometry and Chromosome Sorting.- In Situ Hybridization.- Polymerase Chain Reaction (PCR).- Yeast Artificial Chromosomes (YACs).- References.- 6. Longitudinal Differentiation of Eukaryotic Chromosomes.- Longitudinal Differentiation of Chromosomes.- Molecular Differentiation of Chromosomes.- Prebanding Studies.- Banding Studies on Human Chromosomes.- Nucleoli and Chromocenters.- Constitutive Heterochromatin.- Facultative Heterochromatin.- Transcription of Chromosomes.- Role of Heterochromatin.- References.- 7. Significance of Chromosome Bands.- Chromosome Banding.- Role of the Bands.- Future Problems.- References.- 8. Architecture and Function of the Eukaryotic Chromosome.- Chromosome Architecture.- The Chromosome Scaffold.- Architecture as Related to Regulation of Gene Function.- Telomeres.- Centromeres and Kinetochores.- Relationship between Chromosome Architecture and Nuclear Architecture.- References.- 9. Chromosome Structural Aberrations.- Origin of Structurally Abnormal Chromosomes.- Chromosome Breaks and Rearrangements.- Chromatid Breaks and Rearrangements.- Telomeres.- Telomere Associations.- Origin of Dicentric Chromosomes, Including Isodicentrics and Isochromosomes.- Inactivation of the Centromere.- Misdivision.- Centric Fusion.- Triradial and Multiradial Chromosomes.- Fragile Sites.- References.- 10. Causes of Chromosome Breakage.- Mechanisms of Chromosome Breakage.- Spontaneous Chromosome Breaks.- Radiation-Induced Breaks.- Chemically Induced Breaks.- Virus-Induced Breaks.- Enzyme-Induced Breaks.- Genetic Causes of Chromosome Breaks.- Nonrandomness of Chromosome Breaks.- Methods in Chromosome-Breakage Studies.- Rules for Chromosome-Breakage Studies.- References.- 11. Chromosome Instability Syndromes.- Genotypic Chromosome Breakage.- Bloom Syndrome.- Fanconi Anemia.- Ataxia Telangiectasia.- Xeroderma Pigmentosum.- Other Conditions with Increased Chromosome Aberrations.- Chromosome Instability Syndromes and Cancer.- References.- 12. Sister Chromatid Exchanges and Mitotic Crossing-Over.- Detection of Sister Chromatid Exchanges.- Occurrence of SCE.- SCE in Mutagenesis Research.- Mitotic Crossing-Over.- BS as a Model for Chromosome Instability Syndrome.- Segregation after Mitotic Recombination.- Origin of Mitotic Chiasmata.- Gene Amplification.- References.- 13. Cell Fusion, Prematurely Condensed Chromosomes, and the Origin of Allocyclic Chromosomes.- Prematurely Condensed Chromosomes (PCC).- Uses of PCC Formation.- Origin of Allocyclic Chromosomes.- References.- 14. Chromosome Arrangement in Interphase and in Differentiated Nuclei.- Chromosome Arrangement.- Hypotheses Proposing a Nonrandom Chromosome Arrangement.- Chromosome Arrangement and Differentiation.- Conclusions.- References.- 15. Modifications of Mitosis.- Endoreduplication.- Polyteny.- Endomitosis.- C-Mitosis.- Restitution.- Processes Giving Rise to Multinucleate Cells.- Amitosis.- Multipolar Mitoses.- Other Mitotic Abnormalities.- References.- 16. Chromosomal Differentiation of Cells.- Methods.- Somatic Polyploidy.- Amplification and Underreplication.- Chromosomes and Cell Differentiation.- References.- 17. Main Features of Meiosis.- Significance of Meiosis.- Meiotic Stages.- Premeiotic Interphase.- Leptotene (or Leptonema).- Zygotene (or Zygonema).- Pachytene (or Pachynema).- Diplotene (or Diplonema).- Diakinesis.- Metaphase I.- Anaphase I.- Telophase I.- Interkinesis.- Meiotic Division II.- Some Meiotic Features.- References.- 18. Details of Meiosis.- Structure of Chiasmata.- Number of Chiasmata.- Synaptonemal Complex.- Meiotic Behavior of More Than Two Homologous Chromosomes.- Human Meiosis.- Premeiotic and Early Meiotic Stages in the Human.- Meiosis in Human Spermatocytes.- Behavior of X and Y Chromosomes.- References.- 19. Meiotic Abnormalities.- Nondisjunction of Autosomes.- Nondisjunction of Sex Chromosomes.- Misdivision of the Centromere.- Chromosomally Abnormal Human Sperm.- Male Infertility.- Environmental Causes of Meiotic Nondisjunction.- Parental Age.- Genetic Causes of Nondisjunction.- Origin of Diploid Gametes.- References.- 20. Human Sex Determination and the Y Chromosome.- Y Chromosome.- Sex Determination in Humans.- Fine Structure of the Y Chromosome.- Genes on the Y Chromosome.- Abnormal Y Chromosomes.- References.- 21. Human X Chromosome.- Structure of the X Chromosome.- X Chromatin or Barr Body Formation.- Inactivation of the X Chromosome.- Reactivation of the X Chromosome.- X;Y Translocations.- Sex Reversal.- References.- 22. Abnormal Human Sex Chromosome Constitutions.- Aneuploidy of X Chromosomes in Individuals with a Female Phenotype.- Sex Chromosome Aneuploidy with a Male Phenotype.- Various Abnormalities in X Chromosome Behavior.- References.- 23. Functional Structure of the Human X Chromosome.- Functional Map of the Human X Chromosome.- Inact…