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Genetics --- Genomes --- Genome --- Periodicals. --- periodicals. --- Genomics --- Mutation (Biology) --- Génétique --- Génome humain --- Research --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Variation (Biology) --- Genes --- Proteome --- Genetic Structures --- Genetic Phenomena --- Chromosome Aberrations. --- Mutation. --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Cytogenetics --- Genetics, Medical --- Cytogenetic Analysis --- Mutations --- DNA Damage --- Polymorphism, Restriction Fragment Length --- abnormalities

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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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Genetics --- Chromosomes --- Chromosome Aberrations. --- Mutation. --- Génétique --- Chromosomes. --- Genetics. --- Chromosome theory --- Mutations --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- abnormalities --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Cell nuclei --- Crossing over (Genetics) --- Cytotaxonomy --- Karyokinesis --- Linkage (Genetics) --- DNA Damage --- Polymorphism, Restriction Fragment Length --- Cytogenetics --- Genetics, Medical --- Cytogenetic Analysis

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Bioethics --- Chromosome Aberrations --- Genetic Diseases, Inborn --- Genetics, Medical --- Medische genetica. --- Health Sciences --- Genetics --- Medical genetics --- Human genetics --- Génétique médicale --- Génétique humaine --- Bioéthique --- Bioethics. --- Human genetics. --- Medical genetics. --- Chromosome Aberrations. --- Genetic Diseases, Inborn. --- Genetics, Medical. --- Biology --- Biomedical ethics --- Life sciences --- Life sciences ethics --- Science --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Heredity, Human --- Human biology --- Physical anthropology --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- Cytogenetic Analysis --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Biomedical Ethics --- Health Care Ethics --- Ethics, Biomedical --- Ethics, Health Care --- Ethics, Medical --- Ethicists --- Moral and ethical aspects --- Genetic aspects --- abnormalities --- genetica --- genetics --- geneeskunde --- medicine --- genetische stoornissen --- genetic disorders --- mens --- man --- humane ziekten --- human diseases --- Genetics (General) --- Medicine (General) --- Genetica (algemeen) --- Geneeskunde (algemeen) --- Chromosome abnormalities. --- Genetic disorders. --- Bioéthique. --- Aberrations chromosomiques. --- Maladies génétiques. --- Génétique médicale. --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Chromosomal aberrations --- Chromosome anomalies --- Karyotypes --- Mutation (Biology) --- Chromosome abnormalities

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"This book covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course."--Publisher.

Genetic Diseases, Inborn. --- Chromosome Aberrations. --- Genetics, Medical. --- Medical genetics. --- Developmental biology. --- Génétique médicale --- Biologie du développement --- Medical genetics --- Developmental biology --- Genetic Diseases, Inborn --- Chromosome Aberrations --- Genetics, Medical --- Genetic Testing --- Genetic Screening --- 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 --- Genetic Predisposition to Disease --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Development (Biology) --- Biology --- Growth --- Ontogeny --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- diagnosis --- abnormalities --- Genetic aspects --- medische genetica --- aangeboren afwijkingen --- Genetic disorders. --- Chromosome abnormalities. --- Genetic screening.