Benign and Pathological Chromosomal Imbalances PDF Download
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Author: Thomas Liehr
Publisher: Academic Press
ISBN: 0124046843
Category : Science
Languages : en
Pages : 227
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Book Description
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques
Author: Thomas Liehr
Publisher: Academic Press
ISBN: 0124046843
Category : Science
Languages : en
Pages : 227
Get Book
Book Description
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques
Author: Raymond W. Redline
Publisher: Cambridge University Press
ISBN: 1316632539
Category : Medical
Languages : en
Pages : 367
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Book Description
A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Author: Stéphane Viville
Publisher: Cambridge University Press
ISBN: 100919772X
Category : Medical
Languages : en
Pages : 255
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Book Description
This book combines genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.
Author: Robert O. Greer
Publisher: Cambridge University Press
ISBN: 1316613992
Category : Medical
Languages : en
Pages : 607
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Book Description
A reference for tackling diagnostic dilemmas that pathologists and clinicians encounter when assessing pediatric head and neck disease.
Author: Luis Requena
Publisher: Springer
ISBN: 3319457047
Category : Medical
Languages : en
Pages : 1052
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Book Description
This superbly illustrated book is the most comprehensive available guide to adnexal neoplasms of the skin. More than 70 entities are described in individual chapters that follow a uniform structure: historical review, clinical features, histopathology, histogenesis, immunohistochemistry, molecular anomalies, and treatment. Readers will find state of the art knowledge on all aspects, including the cytogenetic and chromosomal abnormalities associated with each neoplasm. Without exception, the illustrations are high-quality, full-color, original digital pictures. The histopathology images are taken from perfectly cut and stained sections and the immunohistochemistry illustrations are of an unrivalled quality among textbooks of dermatology and dermatopathology. A complete list of references from original description to the present day is also supplied for each neoplasm. Cutaneous adnexal neoplasms are a large and heterogeneous group of benign and malignant lesions. This book will assist the reader in early and correct recognition, which is essential for appropriate choice of treatment and prognostic assessment.
Author: Marta C. Cohen
Publisher: Cambridge University Press
ISBN: 1316124150
Category : Medical
Languages : en
Pages :
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Book Description
Essentials of Surgical Pediatric Pathology is a clear and practical yet comprehensive guide for trainee pediatric pathologists and non-pediatric pathologists. Each chapter corresponds to one of the main subspecialties, such as dermatopathology, head and neck pathology, and system pathology. Practical guidance is given on handling pediatric specimens and the authors highlight the ways in which common conditions present differently in adults and children. Other chapters cover conditions typical of childhood, including soft tissue tumors and blue round cell tumors. The chapters begin with a brief clinical presentation, followed by a clear macroscopical and histological description of the principal pathologies seen in children. Up-to-date genetic and immunohistochemical information is provided, and the book includes hundreds of high-quality color images. Written and edited by leading international experts in the field, this is an essential resource for trainee pediatric pathologists, as well as general pathologists who may encounter pediatric cases.
Author: Marcelo Larramendy
Publisher: BoD – Books on Demand
ISBN: 9535134736
Category : Medical
Languages : en
Pages : 206
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Book Description
This edited book, Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability, contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. We are extremely grateful to the authors who had contributed with valuable information about the role of genomic instability in pathological disorders as well as in the evolution process.
Author: Alecsandru Ioan Baba
Publisher:
ISBN: 9789732714577
Category : Electronic books
Languages : en
Pages : 787
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Book Description
Author: Ivan Iourov
Publisher: Springer Nature
ISBN: 303062532X
Category : Medical
Languages : en
Pages : 184
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Book Description
This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation opens new horizons for basic and applied bioscience Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in diagnostic and research practices to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This second edition serves as a source of updated valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology.
Author: Andreas Houben
Publisher: MDPI
ISBN: 3038977861
Category : Science
Languages : en
Pages : 254
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Book Description
Supernumerary B chromosomes (Bs) are dispensable genetic elements found in thousands of species of plants and animals, and some fungi. Since their discovery more than a century ago, they have been a source of puzzlement, as they only occur in some members of a population and are absent from others. When they do occur, they are often harmful, and in the absence of “selfishness”, based on mechanisms of mitotic and meiotic drive, there appears to be no obvious reason for their existence. Cytogeneticists have long wrestled with questions about the biological existence of these enigmatic elements, including their lack of any adaptive properties, apparent absence of functional genes, their origin, sequence organization, and co-evolution as nuclear parasites. Emerging new technologies are now enabling researchers to step up a gear, to look enthusiastically beyond the previous limits of the horizon, and to uncover the secrets of these “silent” chromosomes. This book provides a comprehensive guide to theoretical advancements in the field of B chromosome research in both animal and plant systems.
