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.
Tabla de materias
Introduction.- Structural chromosome aberrations.- Mutations in non-coding-DNA regions.- Single case presentations.- Mutations in non-coding-DNA regions.- Outlook.- Bibliography.
Sobre el autor
Claudia Behrend, Praxis für Medizinische Genetik, Genetisch-diagnostisches Labor, Düsseldorf, Germany, [email protected]
Head of the private „Institute of Medical Genetics”, Düsseldorf, Medical specialist in gynaecology and medical genetics. This institute of applied Human Genetics focuses on genetic counselling and diagnostic investigations of prenatal and postnatal cases including the analyses of polar bodies. Molecular, molecular-cytogenetic and cytogenetic techniques are applied and one focus of the institute is the improvement and further development of relevant investigation methods. Claudia Behrend is in cooperation with a number of institutes of Human Genetics in research projects and is regularly publishing the results of her investigations.
Dr. Javad Karimzad Hagh, Praxis für Medizinische Genetik, Genetisch-diagnostisches Labor, Düsseldorf, Germany, [email protected]
Collaborator of Claudia Behrend at the „Institute of Medical Genetics”, Düsseldorf, and founder of an Institute of Applied Human Genetics in Tehran, Iran. Besides diagnostic investigations in different fields of cytogenetics and molecular genetics, genetic counselling is offered. The author has published a number of articles in this field of research in international journals. Besides, he is engaged in the field of ethical questions about Human Genetics in Iran and he developed a project on Human Genetics and the Islam.
Prof. Parvin Mehdipour, Tehran University of Medical Sciences, Department of Medical Genetics, Tehran, Iran, [email protected]
Full Professor at the Tehran University of Medical Sciences. She is the editor of books concerning different fields of Human Genetics, 7 of them in English and 3 in Persian (Farsi). Within the last 10 years, she has organized two international tumor congresses in Tehran and 2 workshops. She is engaged in Collaborations and co-operations with European countries (Germany, UK). Besides, she is member of several editorial boards of international journals. The research focus of Parvin Mehdipour is on Cancer Genetics including the following paradigms: cancer evolution, cancer cytogenetics, cancer genomics, cancer biomarkers, cancer early detection, circulating tumour cells in the majority of cancers, cancer cell migration, metastases, cancer hypotheses, target-based drug innovation in cancer.
Prof. Dr. Gesa Schwanitz, em., Institut für Humangenetik, Biomedizinisches Zentrum, Bonn, Germany, [email protected]
Free co-operator of the Institute of Human Genetics, University Bonn. Member of the Ethic Commission of the Medical Faculty. Research projects with extern cooperation. About 250 publications (books and journals). Diploma h.c. Semmelweis University Budapest, Hungary, Honory medal of the Medical University of Bialystok, Poland, Honory medal of the Ministry of Education and Cultural Affairs, Hungary. Involved in further education of biologists and doctors of medicine.
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