Advances in Human Genetics

1 The Molecular Basis of HLA-Disease Association.- Function and Nomenclature.- Class 1.- Class III.- Class II.- Genomic Organization.- Class II.- Whole MHC Complex.- Class II Sequence Polymorphism.- Structural Consideration.- HLA and Disease.- Hybrid Molecules and Transassociation.- Disease-Associated Class II Sequences.- Class II Disease-Associated Sequences Are Common in Normal Individuals.- Diabetes Mellitus.- Rheumatoid Arthritis.- Pemphigus Vulgaris.- Other Diseases.- Conclusions.- Mechanisms of Class II-Mediated Disease Susceptibility.- Insulin-Dependent Diabetes Mellitus.- Rheumatoid Arthritis/Pemphigus Vulgaris.- HLA-B27-Associated Disease.- References.- 2 Chromosome Instability Syndromes.- Clinical Descriptions.- Population Prevalence.- Dermatologic Abnormalities.- Immune Dysfunction.- Neurological Abnormalities.- Predisposition to Cancer.- Other Clinical Findings.- Cytogenetic Findings.- Spontaneous Chromosome Instability.- Spontaneous Chromosome Damage in Different Cell Types and Nonrandom Involvement of Particular Chromosomes.- Induced Chromosome Aberrations.- Biological Factors.- Heterogeneity and Complementation.- Heterozygote Detection.- Prenatal Diagnosis.- Molecular Considerations.- Xeroderma Pigmentosum.- Ataxia-Telangiectasia.- Bloom Syndrome.- Fanconi Anemia.- Conclusion.- References.- 3 Lacticacidemia: Biochemical, Clinical, and Genetic Considerations.- The Biochemical Basis of Lacticacidemia.- Biochemistry of the Pyruvate Dehydrogenase Complex.- Defects in the Pyruvate Dehydrogenase Complex.- Pyruvate Carboxylase Deficiency.- Respiratory Chain Defects.- Defects Associated with Ragged Red Fibers.- Defects That Are Reproducible in Fibroblast Cultures.- Complex Subunit Composition in Respiratory Chain Deficiencies.- The Genetics of Lacticacidemia.- References.- 4 A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes.- Overgrowth in Pediatric and Genetic Perspective.- Mythology of Overgrowth.- Infant Macrosomia.- Classification of Overgrowth.- Cellular Aspects of Overgrowth.- Neoplasia and Overgrowth.- Infants of Diabetic Mothers.- Diabetic Macrosomia.- Congenital Malformations.- Neonatal Small Left Colon Syndrome.- Preventive Measures.- Infant Giants.- Beckwith-Wiedemann Syndrome.- Etiology.- Pathogenesis.- Infant Mortality.- Growth.- Performance and Central Nervous System.- Craniofacial Features.- Visceromegaly.- Histopathology.- Cardiovascular Anomalies.- Other Abnormalities.- Neoplasms.- Laboratory Findings.- Prenatal Diagnosis.- Differential Diagnosis.- Laboratory Aids.- Hemihyperplasia (Hemihypertrophy).- Clinical Manifestations.- Neoplasms.- Differential Diagnosis.- Laboratory Aids.- Sotos Syndrome.- Growth and Skeletal Findings.- Performance and CNS Abnormalities.- Craniofacial Features.- Other Findings.- Neoplasms.- Laboratory Findings.- Differential Diagnosis.- Nevo Syndrome.- Bannayan-Riley-Ruvalcaba Syndrome.- Growth.- Performance.- Craniofacial Features.- Skin.- Gastrointestinal System.- Neoplasms.- Skeletal System.- Other Abnormalities.- Differential Diagnosis.- Laboratory Aids.- Weaver Syndrome.- Growth.- Performance and CNS.- Craniofacial Features.- Limbs.- Other Findings.- Neoplasms.- Differential Diagnosis.- Marshall-Smith Syndrome.- Growth, Performance, and Natural History.- Craniofacial Features.- Skeletal System.- Other Abnormalities.- Differential Diagnosis.- Elejalde Syndrome.- Simpson-Golabi-Behmel Syndrome.- Growth.- Central Nervous System.- Craniofacial Abnormalities.- Limb Anomalies.- Skeletal System.- Cardiovascular Anomalies.- Genitourinary System.- Gastrointestinal Tract.- Skin.- Other Findings.- Differential Diagnosis.- Proteus Syndrome.- Growth.- Performance.- Tumors and Neoplasms.- Skin.- Other Findings.- Differential Diagnosis.- Miscellaneous Conditions with Overgrowth.- Carpenter Syndrome.- Congenital Hypothyroid Gigantism.- Congenital Muscular Hypertrophy, Hypertonia, and Developmental Retardation.- Cranioectodermal Dysplasia.- Ectodermal Overgrowth Syndrome.- Infants of Psoriatic Mothers.- Lipodystrophy.- Osteochondrodysplasia with Hypertrichosis.- Overgrowth with Transposition of the Great Vessels.- Pallister-Killian Syndrome: Mosaic Tetrasomy 12p.- Trisomy 8 Mosaicism.- Stevenson Syndrome.- References.- 5 Genetics of Growth Hormone and Its Disorders.- Human Growth Hormone and Related Hormones.- Human Growth Hormone.- Human Chorionic Somatomammotropin Hormone.- Human Prolactin Hormone.- Human Growth Hormone Gene Cluster.- Genetic Components.- Gene Structure and Biosynthesis.- Evolution of the hGH Gene Cluster.- Restriction Fragment Length Polymorphisms.- Regulation of Expression of the hGH Gene Cluster.- Genetic Disorders of hGH and hCSH Synthesis or Action.- Background.- Diagnosis of hGH Deficiency.- Confirmatory Tests of hGH Deficiency.- Etiology of hGH Deficiency.- Isolated hGH Deficiency.- Bioinactive hGH.- Laron Dwarfism.- Panhypopituitary Dwarfism.- African Pygmies.- Developmental Anomalies and Genetic Syndromes.- Isolated hCSH Deficiency.- Mouse Models of hGH Deficiency.- Recombinant hGH.- Treatment.- Use of GH as a Biological Marker.- Gene Therapy.- Future Studies on hGH and Related Genes.- Gene Regulation and Molecular Basis of Hormonal Effects.- Treatment of Genetic Forms of hGH Deficiency.- References.- Addenda.