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This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.

Human chromosomes --- Medicine. --- Human genetics. --- Cell biology. --- Biomedicine. --- Human Genetics. --- Cell Biology. --- Chromosomes --- Human genetics --- Cytology. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Cell biology --- Cellular biology --- Biology --- Cells --- Cytologists

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Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.

Medical genetics. --- Diagnosis. --- Chromosomes. --- Genetic disorders. --- Genetic counseling. --- Medical Genetics. --- Genetic Service. --- Health counseling --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Chromosome theory --- Cell nuclei --- Crossing over (Genetics) --- Cytotaxonomy --- Genetics --- Karyokinesis --- Linkage (Genetics) --- Examinations, Medical (Diagnosis) --- Medical diagnosis --- Medical examinations (Diagnosis) --- Medical tests (Diagnosis) --- Clinical medicine --- Prognosis --- Symptoms --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Diagnosis --- Testing --- Genetic aspects --- Human chromosomes. --- Chromosomes