Zur Zeit liegt uns keine Inhaltsangabe vor.

Zur Zeit liegt uns keine Inhaltsangabe vor.

1 Chromosomes and Neoplasia.- Genetic Change in Neoplasia.- Regulatory Change.- Structural Genetic Change.- Recognition of Chromosome Changes in Neoplasia.- Significance of Observed Changes.- Nature of the Observations.- Relationship between Induced Aberrations and Aberrations in Cancer Cells.- Environmental Agents.- Role of Mutation and Chromosome Breakage in Cancer.- Possible Links to Aberrations in Cancer Cells.- Technical Considerations in Studying the Chromosomes of Tumor Cells.- Sampling Problem.- Problem of Quality.- Problem of Data Presentation.- Chromosomes of Solid Tumors.- Carcinoma of the Breast.- Carcinoma of the Bladder.- Carcinoma of the Lung.- Retinoblastoma.- Neuroblastoma.- Brain Tumors.- Other Solid Tumors.- Chromosomes of Leukemias and Lymphomas.- Chronic Myeloid Leukemia.- Acute Leukemia.- Chronic Lymphocytic Leukemia.- Lymphomas.- Some Nonmalignant Disorders.- Myeloma.- Myeloproliferative Disorders.- Colonic Polyps.- Significance of Chromosome Changes in Cancer.- Cytogenetics in Clinical Diagnosis and Management of Cancer Patients.- Chronic Myeloid Leukemia and the Philadelphia Chromosome.- Other Neoplasms.- Role of Cytogenetics in Cancer Prevention.- References.- 2 Terminological, Diagnostic, Nosological, and Anatomical-Developmental Aspects of Developmental Defects in Man.- I: Terminological and Epistemological Considerations of Human Malformations.- Naming of Syndromes.- Terminology of Birth Defects.- Congenital Anomalies.- Genetic Diseases, Abiotrophies, and Inborn Errors of Metabolism.- Epistemology of Syndromes.- Concept of Syndromy.- Clinical Epistemology of Birth Defects.- Anomaly Present or Absent.- Anomaly or Normal Variant.- Variant Familial Developmental Pattern.- II: Patient Evaluation, Delineation, and Nosology of Developmental Defects: An Overview.- Study of a Patient with a Syndrome.- Patient Ascertainment.- Patient Diagnosis.- Patient Evaluation.- Study of a Particular Syndrome.- Syndrome Delineation.- Syndrome Exploration.- Syndrome Analysis.- Study of the Relationship of Different Syndromes to Each Other.- Nosological Process.- Nosological Procedures.- Heterogeneity Testing.- Homogeneity Testing.- Nosological Taxonomy.- Symptomatic Taxonomy.- III: Anatomical Phenotypes in Human Aneuploidy.- Gene-Dosage Effects.- Cell Proliferation in Aneuploids.- Gross Anatomical Studies.- Anatomical Phenotype of Trisomy 13.- Anatomical Phenotype of Trisomy 18.- Anatomical Phenotype of Trisomy 21.- Anatomical Studies of a Male Calico Cat.- Conclusions.- References.- 3 Human Alphafetoprotein 1956-1978.- Ontogeny of Alphafetoprotein.- Serum Levels of AFP during Fetal and Perinatal Life.- AFP in Fetal CSF, Urine, and Amniotic Fluid.- AFP in Neonatal and Adult Sera.- AFP in Sera of Normal Pregnant Women.- Synthesis of Alphafetoprotein.- In Vitro Cultures.- Immunofluorescence Studies and Other Methods.- Physicochemical Properties of Alphafetoprotein.- Phylogeny of Alphafetoprotein.- Biological Functions of Alphafetoprotein.- Binding Properties to Hormones.- Immunosuppressive Role.- Alphafetoprotein and Cancer.- AFP in Patients with Hepatocellular Carcinoma.- AFP in Patients with Teratoblastoma.- AFP in Experimental Cancer of the Liver.- AFP in Patients with Gastrointestinal Tumors and Liver Metastases.- AFP and Fetal Alkaline Phosphatase.- Alphafetoprotein in Hepatitis and Other Liver Diseases.- Alphafetoprotein in Inherited Metabolic Diseases.- Alphafetoprotein and Neural Tube Defects.- AFP in the Amniotic Fluid of Fetuses with NTD.- Elevated Levels of AFP in the Amniotic Fluid Not Associated with CNS Abnormalities.- Other Amniotic "Markers" for the Detection of NTD.- Maternal Serum AFP Levels and the Antenatal Diagnosis of NTD.- Effect of AFP on Fetal Development.- Conclusions.- References.- 4 Genetic Mechanisms Contributing to the Expression of the Human Hemoglobin Loci.- Organization of the Human Hemoglobin Genome.- Chromosomal Localization of the Globin Genes.- Number of Structural Genes.- ?-Chain Loci.- The ?-? Linkage.- The ?-Locus Complex.- Structural Variants.- Base-Substitution Variants.- Crossing-Over Variants.- Epigenetic Variants.- Thalassemia and Other Diseases of Genetic Regulation . ..- Globin mRNA Sequence.- Globin Gene Expression.- ?-Thalassemia.- Hereditary Persistence of Fetal Hemoglobin.- ?-Thalassemia.- Hemoglobin Degradation.- Prenatal Diagnosis.- Conclusions.- References.- 5 Genetic Aspects of Folate Metabolism.- Folate Compounds.- Folate Absorption and Distribution.- Folate-Pathway Enzymes.- Folate-Utilizing Reactions.- Folate Interconversions.- Regulation of the Folate Pathways as a Whole.- Genetic Disorders of Folate Metabolism.- Congenital Malabsorption of Folate.- Disorders of Folate Utilization.- Disorders of Folate Interconversion.- Related Inborn Errors That Affect Folate Metabolism.- Disorders That Involve Cobalamin.- Dihydropteridine Reductase Deficiency.- Methionine Adenosyltransferase Deficiency.- Conclusions.- References.- Addenda.