Human Chromosomes

Front Matter....Pages i-xvi
Origins and Directions of Human Cytogenetics....Pages 1-11
The Mitotic Cell Cycle....Pages 13-27
DNA Replication and Chromosome Reproduction....Pages 29-44
General Features of Mitotic Chromosomes....Pages 45-59
The Chemistry and Packaging of Chromosomes....Pages 61-77
Chromosome Bands....Pages 79-94
Molecular Correlates of Chromosome Bands....Pages 95-105
In Situ Hybridization....Pages 107-124
Main Features of Meiosis....Pages 125-140
Details of Meiosis....Pages 141-155
Meiotic Abnormalities: Abnormal Numbers of Chromosomes....Pages 157-174
Abnormal Phenotypes Due to Autosomal Aneuploidy or Polyploidy....Pages 175-185
Chromosome Structural Aberrations....Pages 187-205
The Causes of Structural Aberrations....Pages 207-221
Syndromes Due to Autosomal Deletions and Duplications....Pages 223-237
Clinical Importance of Translocations, Inversions, and Insertions....Pages 239-254
Sex Determination and the Y Chromosome....Pages 255-266
The X Chromosome, Dosage Compensation, and X Inactivation....Pages 267-281
Phenotypic Effects of Sex Chromosome Imbalance....Pages 283-294
Fragile Sites, Trinucleotide Repeat Expansion, and the Fragile X Syndrome....Pages 295-308
Euploid Chromosome Aberrations, Uniparental Disomy, and Genomic Imprinting....Pages 309-322
Chromosome Changes in Cell Differentiation....Pages 323-338
Somatic Cell Hybridization in Cytogenetic Analysis....Pages 339-351
Chromosome Instability Syndromes....Pages 353-367
DNA and Gene Amplification....Pages 369-383
Genome Destabilization and Multistep Progression to Cancer....Pages 385-403
Chromosomes and Cancer: Activation of Oncogenes....Pages 405-414
Chromosomes and Cancer: Inactivation of Tumor Suppressor Genes....Pages 415-430
Mapping Human Chromosomes....Pages 431-446
Genome Plasticity and Chromosome Evolution....Pages 447-461
The Future of Human Cytogenetics....Pages 463-474
Back Matter....Pages 475-501