The 22q11 2 Chromosome Deletion Syndrome

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

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  • Author : Donna M. McDonald-McGinn
  • Publisher : Academic Press
  • Pages : 424 pages
  • ISBN : 9780128160473
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKThe 22q11 2 Chromosome Deletion Syndrome

The 22q11. 2 Chromosome Deletion Syndrome

The 22q11. 2 Chromosome Deletion Syndrome
  • Author : Donna M. McDonald-McGinn
  • Publisher : Academic Press
  • Release : 01 March 2020
GET THIS BOOKThe 22q11. 2 Chromosome Deletion Syndrome

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

Behavioural Phenotypes

Behavioural Phenotypes
  • Author : Gregory O'Brien,William Yule
  • Publisher : Cambridge University Press
  • Release : 18 September 1995
GET THIS BOOKBehavioural Phenotypes

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

Genomic Disorders

Genomic Disorders
  • Author : James R. Lupski,Pawel T. Stankiewicz
  • Publisher : Springer Science & Business Media
  • Release : 10 November 2007
GET THIS BOOKGenomic Disorders

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

Psychiatric Genetics

Psychiatric Genetics
  • Author : Jordan W. Smoller,Beth Rosen Sheidley,Ming T. Tsuang
  • Publisher : American Psychiatric Pub
  • Release : 18 September 2021
GET THIS BOOKPsychiatric Genetics

"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

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Autism and Other Neurodevelopmental Disorders
  • Author : Robin L. Hansen,Sally J. Rogers
  • Publisher : American Psychiatric Pub
  • Release : 18 September 2021
GET THIS BOOKAutism and Other Neurodevelopmental Disorders

Autism and Other Neurodevelopmental Disorders gathers and organizes the most recent information in this important and rapidly expanding field into a clinically useful volume that will enable clinicians, patients, and families to understand these disorders and make sound treatment decisions in light of recent research. The editors, as well as most of the chapter authors, are faculty or former trainees at the prestigious Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis, a collaborative international research center committed to the

Velo-Cardio-Facial Syndrome

Velo-Cardio-Facial Syndrome
  • Author : Kieran C. Murphy,Peter J. Scambler
  • Publisher : Cambridge University Press
  • Release : 30 June 2005
GET THIS BOOKVelo-Cardio-Facial Syndrome

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

Genetics of Developmental Disabilities

Genetics of Developmental Disabilities
  • Author : Merlin Butler,F. John Meaney
  • Publisher : CRC Press
  • Release : 13 June 2019
GET THIS BOOKGenetics of Developmental Disabilities

Published in 2005: Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientific understanding of developmental disabilities.

Secondary Schizophrenia

Secondary Schizophrenia
  • Author : Perminder S. Sachdev,Matcheri S. Keshavan
  • Publisher : Cambridge University Press
  • Release : 04 February 2010
GET THIS BOOKSecondary Schizophrenia

Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical

Developmental Disabilities

Developmental Disabilities
  • Author : Ahmad Salehi
  • Publisher : BoD – Books on Demand
  • Release : 10 July 2013
GET THIS BOOKDevelopmental Disabilities

Although various developmental disabilities affecting children and adults might have different pathogeneses, underlying mechanisms, and clinical presentations, the current books emphasizes the fact that there are numerous commonalities in methods of understanding, clinical diagnosis, and handling of behavioral abnormalities in affected individuals. For instance, understanding sexual maturation and its consequences in people with intellectual disability would certainly present a path to better understanding of the differences with controls and more effective handling of the unwanted consequences in people affected.

Congenital Malformation Syndromes

Congenital Malformation Syndromes
  • Author : D. Donnai,Dian Donnai,Robin M. Winter
  • Publisher : CRC Press
  • Release : 04 September 1998
GET THIS BOOKCongenital Malformation Syndromes

This title provides an addition to the study of muliple congenital anomaly syndromes. It consists of a series of in-depth review articles on 73 congenital malformation syndromes covering newly described syndromes along side ones where threre has been significant advances in knowledge recently. Each article focuses on the range of physical and developmental effects of the syndromes history and the underlying biological mechanisms.

Genetics of Mental Retardation

Genetics of Mental Retardation
  • Author : S.J.L. Knight
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 15 February 2010
GET THIS BOOKGenetics of Mental Retardation

This remarkable publication focuses on the importance of genetics in mental retardation, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have improved over recent years. As a result, clinical evaluation and diagnostic laboratory practice are now undergoing an unprecedented period of change.In a single volume, a unique combination of key individuals and world-class clinical, diagnostic and research-based experts share specialized, state-of the-art knowledge in this field. The parents’ perspective lies behind chapters dealing

Immune Mediated Diseases

Immune Mediated Diseases
  • Author : Michael R Shurin,Yuri S. Smolkin
  • Publisher : Springer Science & Business Media
  • Release : 23 September 2007
GET THIS BOOKImmune Mediated Diseases

This volume includes contributions from the speakers of the Second IMD Congress (September 10-15, 2007; Moscow, Russia) who were eager to share some of the academic and clinical enthusiasm that defines the IMD meetings. The goal of the International Immune-Mediated Diseases: From Theory to Therapy (IMD) Congress is to bring the world’s best immunologists and clinicians to Moscow.

Human Chromosomes

Human Chromosomes
  • Author : Orlando J. Miller,Eeva Therman
  • Publisher : Springer Science & Business Media
  • Release : 28 June 2011
GET THIS BOOKHuman Chromosomes

The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of

Heart Development

Heart Development
  • Author : Richard A. Harvey,Richard P. Harvey,Nadia Rosenthal,Richard A Harvey, PhD
  • Publisher : Gulf Professional Publishing
  • Release : 18 September 1999
GET THIS BOOKHeart Development

This book examines recent studies revealing that the same genes are responsible for development of parallel features between species, and that the heart develops similarly across all species. It includes research being conducted concerning cardiac development, tissue interaction, and organ formation. The text attempts to provide a greater understanding of the underlying causes of heart failure, heart muscle diseases, congenital malformations, and other heart diseases and defects. Key Features * Each chapter has been solicited from a recognized leader in the

Pediatric Neuropsychiatry

Pediatric Neuropsychiatry
  • Author : Aaron J. Hauptman,Jay A. Salpekar
  • Publisher : Springer
  • Release : 26 October 2018
GET THIS BOOKPediatric Neuropsychiatry

Adult neuropsychiatry is now a well-established field with numerous reputable references. Practitioners who work with children routinely note how references and practitioners knowledgeable in the equivalent work in the pediatric world are rare. Child psychiatrists and neurologists frequently work with individuals struggling with these conditions and would strongly benefit from such a reference that incorporates medical work-up, psychopharmacological recommendations, family/support recommendations and theoretical pathophysiology. Pediatricians and developmental pediatricians often treat children with behavioral and neuropsychiatric sequelae, but are not