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Modern Trends in Physiological Sciences, Volume 32: Human Afflictions and Chromosomal Aberrations presents the study of the links between chromosome aberrations and physical and mental congenital anomalies. This book discusses the possibilities of human cytogenetic research as well as its difficulties. Organized into 15 chapters, this volume begins with an overview of the development of human chromosome investigations. This text then explains the methods for studying human chromosomes, which can be applied without controlling the atmosphere of the incubator. Other chapters describe the structural features of the normal human karyotype. This book discusses as well the early appearance of a chromosome aberration that produces a change in the hereditary patrimony manifest in a constitutional disorder of the individual. The final chapter deals with the biochemical effects that correspond to numerical or structural anomalies in chromosome 21. This book is a valuable resource for genetecists, cytogeneticists, physicians, and clinical researchers.
Preface To English EditionPrefaceAcknowledgmentsIntroductionChapter 1. HistoryChapter 2. Techniques of Studying Human ChromosomesChapter 3. Normal Human KaryotypeChapter 4. Trisomy 21Chapter 5. Numerical Autosomal Aberrations. Trisomies 13 and 18Chapter 6. Other Autosomal Anomalies due to Excess or DeficienciesChapter 7. Structural RearrangementsChapter 8. Leukemias and CancersChapter 9. Numerical Gonosomal Aberrations. Ovarian DysgenesisChapter 10. Numerical Gonosomal Aberrations. Testicular DysgenesisChapter 11. Modifications of Gonosomal StructureChapter 12. Hermaphroditism and Pseudo-hermaphroditismChapter 13. Monozygotic Twinning and Chromosome Aberrations (Heterokaryotic Monozygotism)Chapter 14. Mechanism and Effects of Numerical Gonosomal AberrationsChapter 15. Chromosome-linked Biochemical EffectsReferencesIndex
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