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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

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Genetics --- Genetics, Medical --- Genetic Predisposition to Disease --- Genetic Screening --- Genome --- Medical genetics --- Genomics --- Génétique médicale --- Génomique --- Periodicals. --- Périodiques --- Genomes --- Human genome --- Genetics, Medical. --- Genome. --- Genetic Testing. --- Genetic Predisposition to Disease. --- Genomes. --- Human genome. --- Medical genetics. --- Chemistry --- Health Sciences --- Life Sciences --- Biochemistry --- Pathology --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Human Genetics --- Medical Genetics --- Genetics, Human --- genetics --- diagnosis --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Genes --- Proteome --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Human chromosomes --- Haploidy --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Genetic disorders --- Genetic aspects