An Unusual Interstial Duplication of the Long Arm of Chromosome 10 PDF Download

Author: Susan J. Kirkpatrick
Publisher:
ISBN:
Category : Trisomy
Languages : en
Pages : 134

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Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650

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Book Description
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Author: Sean Kehoe
Publisher: RCOG
ISBN: 1906985162
Category : Medical
Languages : en
Pages : 245

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Book Description
This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

Author: Faramarz Naeim
Publisher: Academic Press
ISBN: 0128098449
Category : Science
Languages : en
Pages : 1627

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Book Description
Atlas of Hematopathology: Morphology, Immunophenotype, Cytogenetics, and Molecular Approaches, Second Edition, will appeal to both a wide range of people undergoing training in a variety of medical fields and practicing non-hematopathologists. For clinicians, fellows and residents, correct diagnosis (and therefore correct treatment) of diseases depends on a strong understanding of the molecular basis for the disease, making this book a crucial resource. This atlas contains hundreds of high-quality color images that mirror the findings that fellows and clinicians encounter in practice. In addition, it provides information in a quick, simple and user-friendly manner, attracting both those in training and non- experts. Residents, fellows, practicing clinicians, and researchers in pathology, hematology and hematology/oncology will find this a useful resource. - Covers both non-neoplastic hematopathology and neoplastic hematopathology in all organs and tissues - Demonstrates results of important complementary diagnostic tests, such as immunophenotyping (immunohistochemical stains and flow cytometry), karyotyping, FISH and DNA/molecular studies - Provides tables to summarize the most important clinicopathological features - Saves clinicians and researchers time in quickly accessing the very latest details on the diverse clinical and scientific aspects of hematopathology

Author: James R. Lupski
Publisher: Springer Science & Business Media
ISBN: 1597450391
Category : Medical
Languages : en
Pages : 419

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Book Description
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Author: R. J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 0199329001
Category : Medical
Languages : en
Pages : 729

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Book Description
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Author: Arun Kumar Sharma
Publisher: Springer Science & Business Media
ISBN: 9401003300
Category : Science
Languages : en
Pages : 179

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Book Description
Chromosome Painting is the most modern and novel technique for directly identifying several gene sequences simultaneously in the chromosome, with the aid of specific probes in molecular hybridization. Its resolution ranges from single copy to entire genome sequences. It is now applied in plant, animal, and human systems, in gene mapping, identification of genetic disorders, evolutionary studies, and gene transfer experiments. This treatise is the first of its kind to cover the technique with all its modifications and applications. It is designed for regular use by postgraduate students and research workers in cell and molecular genetics, plant and animal sciences, agriculture, medicine, and phylogenetic studies.

Author: International Standing Committee on Human Cytogenetic Nomenclature
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318022535
Category : Medical
Languages : en
Pages : 148

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Book Description
This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104

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Book Description
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Author: Sverre Heim
Publisher: John Wiley & Sons
ISBN: 1118210581
Category : Medical
Languages : en
Pages : 799

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Book Description
Cancer Cytogenetics, 3rd Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area and incorporates a vast amount of new data from the latest basic and clinical investigations. Edited by two leading experts, and now involving a new panel of international experts, the book offers an authoritative description of neoplastic processes at the chromosomal level of genomic organization. Researchers in cytogenetics, medical and molecular genetics, cellular and molecular biology, cancer research, clinical oncology, and hematology will find this reference both thorough and authoritative.