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 show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal 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.
Mục lục
Introduction: Social Attitude towards Disabled People in Different Areas and Cultures.- Role of Ethics Committees.- International Quality Control in the Field of Diagnostics.- Structural Chromosom Abarrations.- Mutations in Non-coding DNA Regions. Single Case Presentations of Intrachromosomal Rearrangements: Inversions.- Deletions.- Duplications.- Ring Chromosomes.- Isochromosomes. Single Case Presentations of Interchromosomal Rearrangements: Translocations.- Insertions.- Complex Chromosome Rearrangements (CCR).- Marker Chromosomes.- Cases of Intra- and Interchromosomal Mutation in Polymorphic Regions. Guidelines to Clinical Questions and Practical Approaches: Genetic Counselling Procedures.- Life of Persons with Chromosomal Disorders.- Support Groups for Chromosomal Disorders.- Diagnosis and Therapy.- Outlook.
Giới thiệu về tác giả
Claudia Behrend 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 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 isoffered. 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 is a full Professor at the Tehran University of Medical Sciences. She is the editor of books covering various fields of Human Genetics, 7 of them in English and 3 in Persian (Farsi). Within the last 10 years, she has organized two international Cancer Genetics 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 Prof. Mehdipour is on cancer genetics and tumor biology including the following paradigms: cancer evolution, cancer cytogenetics, cancer genomics, cancer biomarkers, cancer early detection, circulating tumor cells in the neoplastic disorders, cell migration, metastasis, and cancer hypothesis.
Prof. Dr. rer.nat. Gesa Schwanitz is a Professor Emeritus of the Institute of Human Genetics in Bonn, Germany. She established the department of cytogenetics at the University of Erlangen-Nuernberg (Germany). After her habilitation, she was offered a professorship at the Institute of Human Genetics, University in Bonn, initially as a member of the medical faculty, later on also of the faculty of natural science. The department of cytogenetics was established and extended, additionally molecular cytogenetic investigation methods were developed. From the very beginning of her professional activity, Prof. Schwanitz established a close cooperation with colleagues from different national and international institutes of human genetics. As an emeritus professor she continues as a member of the Institute of Human Genetics in Bonn and is in charge of the continuing training of medical doctors and biologists in cytogenetics. She performs practical work in the field of diagnostics of chromosomal syndromes leading to a continuance of international standards of chromosome research.
Prof. emeritus Dr.med. Dr.phil. Heinz Schott was Head of the Institute of the History of Medicine (Medizinhistorisches Institut) at the University of Bonn/Germany from 1987 to 2016. His research focuses are: history of psychiatry and psychotherapy; history of early modern medicine and natural philsophy (paracelsianism in particular); concepts of medicine about 1800 (mesmerism and romanticism in particular); history of medical anthropolgy. His magnum opus Magie der Natur, Historische Variationen über ein Motiv der Heilkunst was published in 2014. Since 2003 he is member of the German National Academy of Sciences Leoopldina.
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