Chromosomal Abnormalities
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Cytogenetic Abnormalities
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Author : Susan Mahler Zneimer
language : en
Publisher: John Wiley & Sons
Release Date : 2014-09-22
Cytogenetic Abnormalities written by Susan Mahler Zneimer and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-09-22 with Science categories.
Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases
Chromosomal Abnormalities
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Author : Marcelo Larramendy
language : en
Publisher: BoD – Books on Demand
Release Date : 2017-08-30
Chromosomal Abnormalities written by Marcelo Larramendy and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-08-30 with Medical categories.
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.
Chromosomal Abnormalities
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Author : Tulay Askin Celik
language : en
Publisher: BoD – Books on Demand
Release Date : 2020-11-11
Chromosomal Abnormalities written by Tulay Askin Celik and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-11-11 with Medical categories.
Chromosomes are vital components of genetic material, and, as such, distruption or changes to the structure of chromosomes can result in different health problems and deficits. This book explains chromosomal abnomalities and their effects on living organisms, including humans and plants. Classical and molecular cytogenetics techniques have a considerable number of potential applications, especially in clinical trials and biomedical diagnosis, making them a strong and insightful complement to other molecular and genomic approaches. Chapters cover topics including Down syndrome, fetal ultrasounds, acute myeloid leukemia, and Phelan-McDermid syndrome, among others.
Chromosome Abnormalities And Genetic Counseling
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Author : R. J. McKinlay Gardner
language : en
Publisher: Oxford University Press
Release Date : 2003-08-28
Chromosome Abnormalities And Genetic Counseling written by R. J. McKinlay Gardner and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-08-28 with Medical categories.
Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.
Chromosome Abnormalities And Genetic Counseling
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Author : R.J. MKinlay Gardner
language : en
Publisher: OUP USA
Release Date : 2012
Chromosome Abnormalities And Genetic Counseling written by R.J. MKinlay Gardner and has been published by OUP USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012 with Medical categories.
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.
Gardner And Sutherland S Chromosome Abnormalities And Genetic Counseling
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Author : R.J. McKinlay Gardner
language : en
Publisher: Oxford University Press
Release Date : 2018-02-06
Gardner And Sutherland S Chromosome Abnormalities And Genetic Counseling written by R.J. McKinlay Gardner and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-02-06 with Medical categories.
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.
Down Syndrome And Other Chromosome Abnormalities
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Author : Subrata Dey
language : en
Publisher: BoD – Books on Demand
Release Date : 2022-03-23
Down Syndrome And Other Chromosome Abnormalities written by Subrata Dey and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-03-23 with Medical categories.
This book provides a concise yet comprehensive source of current information on Down syndrome and other chromosomal abnormalities. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. Key features of this book are as follows: • Mechanisms of aneuploidy. • Effect of sociodemographic factors on different congenital disorders. • Haematological malignancies and congenital heart disease in Down syndrome. • Prenatal screening, management and counselling to detect Down syndrome and other chromosomal abnormalities. While aimed primarily at research workers on Down syndrome and different types of chromosomal disorders, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially the parents and relatives of children suffering from Down syndrome and other chromosomal abnormality syndromes.
Abnormal Karyotypes
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Author : Sana Nimer Abu Shihab
language : en
Publisher: AuthorHouse
Release Date : 2013-11-13
Abnormal Karyotypes written by Sana Nimer Abu Shihab and has been published by AuthorHouse this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-11-13 with Medical categories.
In my first book (Your Easy Way To Chromosomes), I talked mainly about the human chromosomes, their structures, abnormality, their syndromes, and chromosomes analysis. In this book I focused on how chromosomal abnormalities happened and showing some of abnormal karyotypes images for each chromosome . A karyotype is a picture of all the chromosomes from an individual’s cells (blood, hair, or any other tissue), photographing them through a microscope and arranging them in pairs, ordered by size and position of centromere. Karyotype test (alternative names Chromosomes Analysis) plays a role in diagnosis genetic diseases which related to chromosomal abnormalities, some birth defects, and even cancers such as certain hematologic and lymphoid disorders. On the other hand some genetic abnormalities cannot be detected by karyotype analysis such as microdeletions. Karyotype helps clinical cytogeneticist to identify abnormalities by: • Count the number of chromosomes and looking for extra such as trisomy 21 or missing chromosomes in a karyotype such as Turner syndrome. • Look for structural changes in chromosomes such as chromosomal deletions, duplications, translocations, or inversions. Writing a book related to your field shows your passion and commitment to your job Sana Nimer [email protected] [email protected]
Current Management In Child Neurology
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Author : Bernard L. Maria
language : en
Publisher: PMPH-USA
Release Date : 2009
Current Management In Child Neurology written by Bernard L. Maria and has been published by PMPH-USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009 with Medical categories.
One in ten children seen in primary care practice and 25% of hospitalized children appear with a neurologic complaint. The fourth edition of Current Management in Child Neurology provides succinct reviews in the form of superb "how-to" chapters on the most common neurological complaints and pathologic conditions seen in pediatric practice. This volume provides clinicians with a state-of-the-art "toolbox" for diagnosis and treatment of the most commonly presented neurologic disorders and dysfunctions in children, including headache, seizures and epilepsy, neurobehavioral disorders, school readiness, developmental delay, trauma, meningitis and encephalitis, injury to the preterm and term brains, and status epilepticus. Chapters new to the 4th edition include information on a range of other conditions such as microcephaly, neurodegenerative disorders, chromosomal disorders, epilepsy in adolescence, epileptic encephalopathy, pediatric neurotransmitter disorders, and tropical child neurology as well as current approaches to neonatal or infantile facial dysmorphism and congenital muscular dystrophies. The 4th edition of Current Management in Child Neurology has 111 chapters organized into three sections: Clinical Practice Trends, The Office Visit, and The Hospitalized Child. Each of the sections contains carefully selected readings and Web resources for practitioners and patients who seek relevant information on topics addressed in the book's chapters. Since the third edition, online resources have increased exponentially, and Current Management in Child Neurology directs its readers to the most high-quality information available.
Rubin S Pathology
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Author : Raphael Rubin
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 2008
Rubin S Pathology written by Raphael Rubin and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Medical categories.
Rubin's Pathology, Fifth Edition has won First Prize in Pathology in the British Medical Association Book Competition Awards, 2008. Widely acclaimed for its clinical approach to pathology and superb full-color illustrations, Rubin's Pathology is now in its Fifth Edition—with a new editorial team, fully updated chapters, enhanced illustrations, and a complete new suite of online supplements for students and faculty. This edition includes over 200 new full-color schematic drawings, photographs, and micrographs, and timely coverage of bioterrorism, emerging diseases, and stem cell research. A new design feature visually highlights the pathogenesis information on pathologic conditions to help students quickly locate and focus on this crucial material. A brand-new companion Website on thePoint includes fully searchable text, interactive case studies, images, audio lectures, and teaching tools.