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Chromosome Aberrations --- Bone Neoplasms --- Soft Tissue Neoplasms --- Transplantation, Genetic
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Genetic counseling --- Human chromosome abnormalities --- Chromosome Aberrations --- Genetic Counseling --- Patients --- Counseling of
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Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
Genetic disorders. --- Human cytogenetics. --- Medical genetics. --- Medical genetics --- Human cytogenetics --- Genetic disorders --- Study Characteristics --- Pathologic Processes --- Mutation --- Genetic Diseases, Inborn --- Congenital Abnormalities --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Genetic Variation --- Publication Characteristics --- Pathological Conditions, Signs and Symptoms --- Genetic Phenomena --- Diseases --- Phenomena and Processes --- Case Reports --- Chromosome Aberrations --- Chromosome Disorders --- Medicine --- Biology --- Health & Biological Sciences --- Pathology --- Genetics --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Cytogenetics, Human --- Clinical genetics --- Heredity of disease --- Genetic aspects --- Medicine. --- Human genetics. --- Cytogenetics. --- Laboratory medicine. --- Reproductive medicine. --- Biomedicine. --- Human Genetics. --- Reproductive Medicine. --- Laboratory Medicine. --- Cytogenetics --- Human genetics --- Medical sciences
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Polyploidy – whole-genome duplication (WGD) – is a fundamental driver of biodiversity with significant consequences for genome structure, organization, and evolution. Once considered a speciation process common only in plants, polyploidy is now recognized to have played a major role in the structure, gene content, and evolution of most eukaryotic genomes. In fact, the diversity of eukaryotes seems closely tied to multiple WGDs. Polyploidy generates new genomic interactions – initially resulting in “genomic and transcriptomic shock” – that must be resolved in a new polyploid lineage. This process essentially acts as a “reset” button, resulting in genomic changes that may ultimately promote adaptive speciation. This book brings together for the first time the conceptual and theoretical underpinnings of polyploid genome evolution with syntheses of the patterns and processes of genome evolution in diverse polyploid groups. Because polyploidy is most common and best studied in plants, the book emphasizes plant models, but recent studies of vertebrates and fungi are providing fresh perspectives on factors that allow polyploid speciation and shape polyploid genomes. The emerging paradigm is that polyploidy – through alterations in genome structure and gene regulation – generates genetic and phenotypic novelty that manifests itself at the chromosomal, physiological, and organismal levels, with long-term ecological and evolutionary consequences.
Life Sciences. --- Evolutionary Biology. --- Plant Genetics & Genomics. --- Plant Biochemistry. --- Life sciences. --- Biochemistry. --- Evolution (Biology). --- Plant breeding. --- Sciences de la vie --- Biochimie --- Evolution (Biologie) --- Plantes --- Amélioration --- Plant genetics. --- Polyploidy. --- Plants --- genetics. --- Genetics. --- Plant genetics --- Polyploidy --- Eukaryota --- Chromosome Aberrations --- Biology --- Biological Science Disciplines --- Pathologic Processes --- Organisms --- Natural Science Disciplines --- Pathological Conditions, Signs and Symptoms --- Diseases --- Disciplines and Occupations --- Genetics --- Health & Biological Sciences --- Evolution --- Evolutionary genetics. --- Genetic evolution --- Plant biochemistry. --- Evolutionary biology. --- Evolution (Biology) --- Chromosome numbers --- Plant Genetics and Genomics. --- Biological chemistry --- Chemical composition of organisms --- Physiological chemistry --- Chemistry --- Medical sciences --- Animal evolution --- Animals --- Biological evolution --- Darwinism --- Evolutionary biology --- Evolutionary science --- Origin of species --- Biological fitness --- Homoplasy --- Natural selection --- Phylogeny --- Composition --- Phytochemistry --- Plant biochemistry --- Plant chemistry --- Biochemistry --- Botany --- Phytochemicals --- Plant biochemical genetics
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