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Le syndrome de Turner touche 1 naissance sur 2500 et atteint exclusivement les filles. Il est dû à une anomalie de nombre ou de structure du chromosome X qui est responsable d'une petite taille, d'une dysgénésie gonadique et d'atteintes polyviscérales. Depuis vingt ans la prise en charge pédiatrique a révolutionné le devenir de ces enfants grâce aux traitements par hormone de croissance et par estrogènes. Une synthèse des connaissances cliniques relatives à chaque spécialité était nécessaire de manière à développer une approche pluridisciplinaire indispensable dans ce type d'affection. Cet ouv
Turner's syndrome. --- Sex chromosome abnormalities. --- Chromosome abnormalities --- Sexual disorders --- Gonadal dysgenesis --- Turner syndrome --- Sex chromosome abnormalities --- Sex differentiation disorders --- Syndromes
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Genetics --- medical --- Genetics, Medical. --- erfelijkheidsleer --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- medical. --- Medical. --- Genetics, Medical
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Human genetics. --- Genetics, Medical --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology
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Genetics --- Cytology --- Cytology. --- Genetics. --- Cytogenetics. --- Cytogenetic --- Cell biology --- Cellular biology --- Cytogenetic Analysis --- Chromosome Disorders --- Sex Chromosome Disorders --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Cells --- Cytologists --- Cytogenetics --- Life Sciences
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Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects provides the first in-depth reference for understanding and treating patients of human albinism in Africa. Leading international contributors examine the historical, geographic, psychosocial, genetic and molecular considerations of importance in effectively and sensitively managing this genetic disorder. Foundational chapters covering the historical and psychosocial aspects of albinism are supplemented by discussions of the pathobiology of the disease, as well as a thorough analysis of the genetics of skin pigmentation, eye pigmentation, hair pigmentation, and incidents of skin cancer involved in the manifestations of this disorder. New prenatal diagnostics and genetic testing methods, genetic risk assessment for individuals, families, and communities, and novel genetic markers that may be used for developing new therapeutics for treating albinism are also discussed in detail. The book provides care management approaches that may be applied to instances of albinism in other regions, along with guiding principles for treating rare genetic disorders and stigmatized patient populations across the globe.
Pigmentation disorders. --- Albinos and albinism --- Albinism. --- Genetics, Medical. --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Monophenol Monooxygenase --- Albinism --- Leucoderma --- Leucopathy --- Pigmentation disorders --- Deficiency diseases --- Metabolism --- Skin --- Disorders --- Diseases --- Africa. --- Eastern Hemisphere
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Medical genetics --- Genetics, Medical --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects
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Medical genetics. --- Epigenetics. --- Genetics, Medical. --- Epigenomics --- Epigenetics --- Epigenetic --- Epigenomic --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects
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This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed.; X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
X-linked mental retardation --- Sex Chromosome Disorders --- X Chromosome --- Genetic Diseases, Inborn --- Sex Chromosomes --- Chromosome Disorders --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Chromosomes --- Diseases --- Congenital Abnormalities --- Cellular Structures --- Genetic Structures --- Genetic Phenomena --- Cells --- Anatomy --- X-linked Intellectual disability --- Sex Chromosome Disorders. --- X Chromosome. --- Genetic Diseases, Inborn. --- Sex Chromosomes. --- Chromosome Disorders. --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities. --- Chromosomes. --- Disease. --- Congenital Abnormalities. --- Cellular Structures. --- Genetic Structures. --- Genetic Phenomena. --- Cells. --- Anatomy.
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Human genetics --- Medical genetics --- Génétique médicale --- Periodicals. --- Périodiques --- Medical genetics. --- Génétique médicale. --- 44.48 medical genetics --- Genetics, Medical. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Periodicals --- Health Sciences --- Life Sciences --- Genetics --- Pathology --- Biology --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Medical sciences --- Genetic disorders --- Genetics, Medical
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Human genetics --- Genetics, Medical. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Periodicals --- Medical genetics --- Medical genetics. --- Génétique médicale. --- 44.48 medical genetics --- Life Sciences --- Genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Medical sciences --- Pathology --- Genetic disorders --- 44.48 medical genetics. --- Genetics, Medical
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