This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, practising physicians, laboratory technicians, and researchers to have a concise, up-to-date summary of the normal and abnormal behavior of chromosomes. This book continues to fulfill that need, and is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects.
This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, practising physicians, laboratory technicians, and researchers to have a concise, up-to-date summary of the normal and abnormal behavior of chromosomes. This book continues to fulfill that need, and is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects.
1 Origins and Directions of Human Cytogenetics.- 2 The Mitotic Cell Cycle.- 3 DNA Replication and Chromosome Reproduction.- 4 General Features of Mitotic Chromosomes.- 5 The Chemistry and Packaging of Chromosomes.- 6 Chromosome Bands.- 7 Molecular Correlates of Chromosome Bands.- 8 In Situ Hybridization.- 9 Main Features of Meiosis.- 10 Details of Meiosis.- 11 Meiotic Abnormalities: Abnormal Numbers of Chromosomes.- 12 Abnormal Phenotypes Due to Autosomal Aneuploidy or Polyploidy.- 13 Chromosome Structural Aberrations.- 14 The Causes of Structural Aberrations.- 15 Syndromes Due to Autosomal Deletions and Duplications.- 16 Clinical Importance of Translocations, Inversions, and Insertions.- 17 Sex Determination and the Y Chromosome.- 18 The X Chromosome, Dosage Compensation, and X Inactivation.- 19 Phenotypic Effects of Sex Chromosome Imbalance.- 20 Fragile Sites, Trinucleotide Repeat Expansion, and the Fragile X Syndrome.- 21 Euploid Chromosome Aberrations, Uniparental Disomy, and Genomic Imprinting.- 22 Chromosome Changes in Cell Differentiation.- 23 Somatic Cell Hybridization in Cytogenetic Analysis.- 24 Chromosome Instability Syndromes.- 25 DNA and Gene Amplification.- 26 Genome Destabilization and Multistep Progression to Cancer.- 27 Chromosomes and Cancer: Activation of Oncogenes.- 28 Chromosomes and Cancer: Inactivation of Tumor Suppressor Genes.- 29 Mapping Human Chromosomes.- 30 Genome Plasticity and Chromosome Evolution.- 31 The Future of Human Cytogenetics.
From the contents: Preface.- Origins and Directions of Human Cytogenetics.- The Mitotic Cell Cycle and Chromosome Reproduction.- General Features of Mitotic Chromosomes.- The Chemistry and Packaging of Chromosomes.- Chromosome Bands.- Molecular Correlates of Chromosome Bands.- In situ Hybridization.- Somatic Cell Hybridization in Cytogenetic Analysis.- Main Features of Meiosis.- Details of Meiosis.- Meiotic Abnormalities: Abnormal Numbers of Chromosomes.- Abnormal Phenotypes due to Autosomal Aneuploidy.- Phenotypic Effects of Sex Chromosome Imbalance.- Sex Determination and the Y-chromosome.- The X Chromosome, Dosage Compensation, and X-inactivation.- Euploid Chromosome Aberrations, Uniparental Dsomy, and Imprinting.- Chromosome Changes During Cell Differentiation.- Chromosomal Structural Aberrations.- Abnormal Phenotypes Due to Autosomal Duplications and Deletions.- Structural Aberrations Involving Two or More Chromosomes.- Clinical Importance of Translocations and Inversions.- Chromosome Instability Syndromes.- Sister Chromatid Exchanges and Mitotic Crossing-Over.- Genome Instability and Multistep Carcinogenesis.- Chromosomes and Cancer. And much more.... From the contents: Preface.- Origins and Directions of Human Cytogenetics.- The Mitotic Cell Cycle and Chromosome Reproduction.- General Features of Mitotic Chromosomes.- The Chemistry and Packaging of Chromosomes.- Chromosome Bands.- Molecular Correlates of Chromosome Bands.- In situ Hybridization.- Somatic Cell Hybridization in Cytogenetic Analysis.- Main Features of Meiosis.- Details of Meiosis.- Meiotic Abnormalities: Abnormal Numbers of Chromosomes.- Abnormal Phenotypes due to Autosomal Aneuploidy.- Phenotypic Effects of Sex Chromosome Imbalance.- Sex Determination and the Y-chromosome.- The X Chromosome, Dosage Compensation, and X-inactivation.- Euploid Chromosome Aberrations, Uniparental Dsomy, and Imprinting.- Chromosome Changes During Cell Differentiation.- Chromosomal Structural Aberrations.-
1 Origins and Directions of Human Cytogenetics.- 2 The Mitotic Cell Cycle.- 3 DNA Replication and Chromosome Reproduction.- 4 General Features of Mitotic Chromosomes.- 5 The Chemistry and Packaging of Chromosomes.- 6 Chromosome Bands.- 7 Molecular Correlates of Chromosome Bands.- 8 In Situ Hybridization.- 9 Main Features of Meiosis.- 10 Details of Meiosis.- 11 Meiotic Abnormalities: Abnormal Numbers of Chromosomes.- 12 Abnormal Phenotypes Due to Autosomal Aneuploidy or Polyploidy.- 13 Chromosome Structural Aberrations.- 14 The Causes of Structural Aberrations.- 15 Syndromes Due to Autosomal Deletions and Duplications.- 16 Clinical Importance of Translocations, Inversions, and Insertions.- 17 Sex Determination and the Y Chromosome.- 18 The X Chromosome, Dosage Compensation, and X Inactivation.- 19 Phenotypic Effects of Sex Chromosome Imbalance.- 20 Fragile Sites, Trinucleotide Repeat Expansion, and the Fragile X Syndrome.- 21 Euploid Chromosome Aberrations, Uniparental Disomy, and Genomic Imprinting.- 22 Chromosome Changes in Cell Differentiation.- 23 Somatic Cell Hybridization in Cytogenetic Analysis.- 24 Chromosome Instability Syndromes.- 25 DNA and Gene Amplification.- 26 Genome Destabilization and Multistep Progression to Cancer.- 27 Chromosomes and Cancer: Activation of Oncogenes.- 28 Chromosomes and Cancer: Inactivation of Tumor Suppressor Genes.- 29 Mapping Human Chromosomes.- 30 Genome Plasticity and Chromosome Evolution.- 31 The Future of Human Cytogenetics.
From the contents: Preface.- Origins and Directions of Human Cytogenetics.- The Mitotic Cell Cycle and Chromosome Reproduction.- General Features of Mitotic Chromosomes.- The Chemistry and Packaging of Chromosomes.- Chromosome Bands.- Molecular Correlates of Chromosome Bands.- In situ Hybridization.- Somatic Cell Hybridization in Cytogenetic Analysis.- Main Features of Meiosis.- Details of Meiosis.- Meiotic Abnormalities: Abnormal Numbers of Chromosomes.- Abnormal Phenotypes due to Autosomal Aneuploidy.- Phenotypic Effects of Sex Chromosome Imbalance.- Sex Determination and the Y-chromosome.- The X Chromosome, Dosage Compensation, and X-inactivation.- Euploid Chromosome Aberrations, Uniparental Dsomy, and Imprinting.- Chromosome Changes During Cell Differentiation.- Chromosomal Structural Aberrations.- Abnormal Phenotypes Due to Autosomal Duplications and Deletions.- Structural Aberrations Involving Two or More Chromosomes.- Clinical Importance of Translocations and Inversions.- Chromosome Instability Syndromes.- Sister Chromatid Exchanges and Mitotic Crossing-Over.- Genome Instability and Multistep Carcinogenesis.- Chromosomes and Cancer. And much more.... From the contents: Preface.- Origins and Directions of Human Cytogenetics.- The Mitotic Cell Cycle and Chromosome Reproduction.- General Features of Mitotic Chromosomes.- The Chemistry and Packaging of Chromosomes.- Chromosome Bands.- Molecular Correlates of Chromosome Bands.- In situ Hybridization.- Somatic Cell Hybridization in Cytogenetic Analysis.- Main Features of Meiosis.- Details of Meiosis.- Meiotic Abnormalities: Abnormal Numbers of Chromosomes.- Abnormal Phenotypes due to Autosomal Aneuploidy.- Phenotypic Effects of Sex Chromosome Imbalance.- Sex Determination and the Y-chromosome.- The X Chromosome, Dosage Compensation, and X-inactivation.- Euploid Chromosome Aberrations, Uniparental Dsomy, and Imprinting.- Chromosome Changes During Cell Differentiation.- Chromosomal Structural Aberrations.-
Rezensionen
Each word tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any cytogenetics course." American Journal of Human Genetics "...the leading textbook in English on human cytogenetics." Cell.
From the reviews of the third edition "Each word "tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any cytogenetics course." - American Journal of Human Genetics" ...the leading textbook in English on human cytogenetics." - Cell
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