The 22q11.2 Chromosome Deletion Syndrome Books

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Genomic Disorders


Genomic Disorders
  • Author : James R. Lupski
  • Publisher : Springer Science & Business Media
  • Release : 2007-11-10
  • ISBN : 9781597450393
  • Language : En, Es, Fr & De
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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.

The 22q11 2 Chromosome Deletion Syndrome


The 22q11  2 Chromosome Deletion Syndrome
  • Author : Donna M. McDonald-McGinn
  • Publisher : Academic Press
  • Release : 2020-03
  • ISBN : 0128160470
  • Language : En, Es, Fr & De
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The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this syndrome. Leading international contributors cover the background, genetics, testing methods and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts and tables that enhance concept illustration and aid in real-time decision-making. As 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, this book will help researchers, clinicians and advanced students gain a full understanding of how to diagnosis and treat rare genetic diseases. Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making

Psychiatric Genetics


Psychiatric Genetics
  • Author : Jordan W. Smoller
  • Publisher : American Psychiatric Pub
  • Release : 2008
  • ISBN : 1585622060
  • Language : En, Es, Fr & De
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"The book first presents a framework for understanding and critically evaluating psychiatric genetic research literature, then provides guidelines for genetic counseling. Subsequent chapters summarize genetic aspects of major psychiatric conditions - as well as neuropsychiatric manifestations of other genetic disorders. Risk/benefit considerations related to medication use during pregnancy are then presented. Coverage of ethical, legal, and social implications illustrates the dilemmas that arise with advances in genetic research. Whether used as a clinical guide, reference, or ancillary text, Psychiatric Genetics provides the most up-to-date source on the impact of this growing field on everyday psychiatric practice."--BOOK JACKET.

Behavioural Phenotypes


Behavioural Phenotypes
  • Author : Gregory O'Brien
  • Publisher : Cambridge University Press
  • Release : 1995
  • ISBN : 1898683069
  • Language : En, Es, Fr & De
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It has long been recognized that people with identifiable congenital causes of developmental disabilities display peculiar patterns of behavior and temperament. An explosion of new information in the field of so-called behavioral genetics has precipitated a need for a book describing behaviorial phenotypes. The book consists of three parts: Part I opens with an account of the evolution of behaviorial genetics in developmental disability. The second part covers measurement and research methodology and includes chapters on various types of self-injurious behavior that occur in different phenotypes and a chapter on Fragile X--a model for inquiry into behavioral phenotypes. The sections on genetic analysis are particularly useful to clinicians who are unfamiliar with contemporary genetic techniques. Part III summarizes behavioral phenotypes of over thirty biologically distinct conditions.

Velo Cardio Facial Syndrome


Velo Cardio Facial Syndrome
  • Author : Kieran C. Murphy
  • Publisher : Cambridge University Press
  • Release : 2005-06-30
  • ISBN : 1139443623
  • Language : En, Es, Fr & De
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Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.