Advances in Human Genetics [Paperback]

1 The Chondrodystrophies.- Classification of the Chondrodystrophies.- Evaluation of the Dwarfed Patient.- Clinical, Radiographic, Genetic, and Pathological Features of the Chondrodystrophies.- Achondroplasia.- Hypochondroplasia.- Thanatophoric Dwarfism.- Achondrogenesis..- Diastrophic Dwarfism.- Diastrophic Variant.- Chondrodysplasia Punctata.- The Multiple Epiphyseal Dysplasias.- The Spondyloepiphyseal Dysplasias.- The Pseudoachondroplastic Dysplasias.- Metatropic Dwarfism.- The Kniest Syndrome.- Parastremmatic Dwarfism.- Dyggve-Melchior-Clausen Syndrome.- Spondylometaphyseal Dysplasia.- The Metaphyseal Chondrodysplasias (Metaphyseal Dysostoses).- Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome).- Asphyxiating Thoracic Dysplasia (Asphyxiating Thoracic Dystrophy, Jeune Syndrome).- Mesomelic Dwarfism.- Acromesomelic Dwarfism.- Acrodysplasia (Peripheral Dysostosis).- The Mucopolysaccharidoses.- Animal Models of the Chondrodystrophies.- Future Trends in Chondrodystrophy Research.- 2 New Techniques in the Study of Human Chromosomes: Methods and Applications.- Fluorescence Microscopy.- The Q Bands.- The R Bands.- The T Bands.- Giemsa Staining.- The G Bands.- The R Bands.- The C Bands.- The Usage of Banding Techniques.- Abnormalities Detected by Banding Analysis.- Trisomy 21.- Trisomy 13.- Trisomy 18.- Trisomy 8.- Partial Trisomy.- Cri du Chat Syndrome.- Deletion of the Short Arm of Chromsome 4.- Monosomy 21.- Translocation Studies.- Sex Chromosome Anomalies.- Acquired Anomaly: The Ph1 Chromosome.- Chemical Properties of the Bands.- The DNA Hypothesis.- The Protein Hypothesis.- The DNA-Protein Complex.- Technical Appendix.- 3 The Thalassemias: Models for Analysis of Quantitative Gene Control.- History.- Early Descriptions.- Early Concepts of Etiology.- Post-1949 History.- Definition.- Organization of Globin Genes.- Position on Chromosomes.- Organization Within the Non-? Cistrons.- Organization Within the ? Cistrons.- Ontogeny of Hemoglobin Production.- Inheritancelı