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The 22q11 2 Chromosome Deletion Syndrome

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The Chromosome 22q11 2 Deletion Syndrome

The Chromosome 22q11 2 Deletion Syndrome Book
Author : Donna M. McDonald-McGinn
Publisher : Elsevier
Release : 2022-08-12
ISBN : 0128160470
Language : En, Es, Fr & De

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Book Description :

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

Genomic Disorders

Genomic Disorders Book
Author : James R. Lupski,Pawel T. Stankiewicz
Publisher : Springer Science & Business Media
Release : 2007-11-10
ISBN : 1597450391
Language : En, Es, Fr & De

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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.

Secondary Schizophrenia

Secondary Schizophrenia Book
Author : Perminder S. Sachdev,Matcheri S. Keshavan
Publisher : Cambridge University Press
Release : 2010-02-04
ISBN : 1139485229
Language : En, Es, Fr & De

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Book Description :

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 disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.

Chromosomal Variation in Man

Chromosomal Variation in Man Book
Author : Digamber S. Borgaonkar
Publisher : Unknown
Release : 1977
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Over 1500 entries to literature (mostly English-language journal articles). Sources were Current contents, various genetics journals, Excerpta medica, and Index medicus. Entries arranged under sections titled Structural variations and anomalies, Numerical anomalies, and Chromosome breakage syndromes. Author, selected syndrome index.

Educating Children with Velo Cardio Facial Syndrome 22q11 2 Deletion Syndrome and DiGeorge Syndrome Third Edition

Educating Children with Velo Cardio Facial Syndrome  22q11 2 Deletion Syndrome  and DiGeorge Syndrome  Third Edition Book
Author : Donna Cutler-Landsman
Publisher : Plural Publishing
Release : 2020-01-01
ISBN : 1635501717
Language : En, Es, Fr & De

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Book Description :

The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements

The Chromosome 22q11 2 Deletion Syndrome

The Chromosome 22q11 2 Deletion Syndrome Book
Author : Donna M. McDonald-McGinn
Publisher : Academic Press
Release : 2022-08-26
ISBN : 0128160489
Language : En, Es, Fr & De

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Book Description :

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion 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 every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making

Psychiatric Genetics

Psychiatric Genetics Book
Author : Jordan W. Smoller,Beth Rosen Sheidley,Ming T. Tsuang
Publisher : American Psychiatric Pub
Release : 2009-02-20
ISBN : 1585628794
Language : En, Es, Fr & De

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Book Description :

As more patients seek information about family risks of psychiatric illness -- an interest likely to increase as gene-identification studies are publicized -- most psychiatrists agree it is their role to discuss these issues but admit they are ill-prepared to do so. Psychiatric Genetics addresses that need as the first book to focus on clinical applications of genetics in psychiatry. It covers issues involved in genetic counseling, the interpretation of familial and genetic information for clinical use, information regarding risks associated with specific psychiatric disorders, risk/benefit considerations related to medication use during pregnancy, and the ethical and social implications of psychiatric genetic knowledge and research -- including the prospects for genetic testing. While other books have been written for the genetics community, this volume is addressed to practitioners: a clinically relevant resource that can help them understand the often bewildering flood of information about genetics -- information difficult to interpret, let alone integrate into practice -- and enable them to respond to patients' requests to predict the risk of recurrence of psychiatric illness or provide information about reproductive and pregnancy-related issues. Experts from psychiatry, genetic epidemiology, molecular genetics, genetic counseling, cognitive psychology, and ethics focus on issues that have received little attention elsewhere yet are of increasing importance to clinicians. Written at a level that assumes no particular expertise in genetics, the book features these immediately applicable benefits: It offers a framework for understanding and critically evaluating the psychiatric genetic research literature, enabling clinicians to better understand the meaning and limitations of genetic discoveries when patients raise questions about media reports. It provides a resource for clinicians who would like more information about the role and content of genetic counseling, outlining a typical counseling session while demonstrating how risks are estimated and discussed. It summarizes genetic aspects of major psychiatric conditions -- from childhood-onset disorders through psychotic, mood, and anxiety disorders to dementia -- as well as neuropsychiatric manifestations of other genetic disorders. It alerts clinicians to risk/benefit considerations related to medication use during pregnancy. It covers the ethical, legal, and social implications of genetic research and counseling, illustrating the dilemmas that arise with new advances. Whether used as a clinical guide, reference, or ancillary text, this book sets the standard for the application of psychiatric genetic knowledge in everyday practice. Psychiatrists, mental health clinicians, and genetic counselors will find it an essential resource for all patient encounters in which genetic issues arise.

Sleep and Affect

Sleep and Affect Book
Author : Kimberly Babson,Matthew Feldner
Publisher : Academic Press
Release : 2015-01-21
ISBN : 0124172008
Language : En, Es, Fr & De

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Book Description :

Sleep and Affect: Assessment, Theory, and Clinical Implications synthesizes affective neuroscience research as it relates to sleep psychology and medicine. Evidence is provided that normal sleep plays an emotional regulatory role in healthy humans. The book investigates interactions of sleep with both negative and positive emotions, along with their clinical implications. Sleep research is discussed from a neurobiological, cognitive, and behavioral approach. Sleep and emotions are explored across the spectrum of mental health from normal mood and sleep to the pathological extremes. The book, additionally, offers researchers a guide to methods and research design for studying sleep and affect. This book will be of use to sleep researchers, affective neuroscientists, and clinical psychologists in order to better understand the impact of emotion on sleep as well as the effect of sleep on physical and mental well-being. Contains neurobiological, cognitive, and behavioral approaches Explains methods for examining sleep and affect Summarizes research on sleep and specific affect states Translates research for clinical use in treating disorders

Etiology and Morphogenesis of Congenital Heart Disease

Etiology and Morphogenesis of Congenital Heart Disease Book
Author : Toshio Nakanishi,Roger R. Markwald,H.Scott Baldwin,Bradley B. Keller,Deepak Srivastava,Hiroyuki Yamagishi
Publisher : Springer
Release : 2016-06-24
ISBN : 4431546286
Language : En, Es, Fr & De

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Book Description :

This volume focuses on the etiology and morphogenesis of congenital heart diseases. It reviews in detail the early development and differentiation of the heart, and later morphologic events of the cardiovascular system, covering a wide range of topics such as gene functions, growth factors, transcription factors and cellular interactions that are implicated in cardiac morphogenesis and congenital heart disease. This book also presents recent advances in stem cell and cell sheet tissue engineering technologies which have the potential to provide novel in vitro disease models and to generate regenerative paradigms for cardiac repair and regeneration. This is the ideal resource for physician scientists and investigators looking for updates on recent investigations on the origins of congenital heart disease and potential future therapies.

Genetics for Pediatricians

Genetics for Pediatricians Book
Author : Mohnish Suri,Ian D. Young
Publisher : Remedica
Release : 2005-01-01
ISBN : 1901346633
Language : En, Es, Fr & De

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Book Description :

Annotation Pediatricians, medical geneticists, genetics counselors. Genetic testing now plays an important role in the investigation of almost every child who presents with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. In this book, coverage has been restricted to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.

Velo Cardio Facial Syndrome

Velo Cardio Facial Syndrome Book
Author : Kieran C. Murphy,Peter J. Scambler
Publisher : Cambridge University Press
Release : 2005-06-30
ISBN : 9781139443623
Language : En, Es, Fr & De

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Book Description :

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.

Vulnerability to Psychosis

Vulnerability to Psychosis Book
Author : Franco De Masi
Publisher : Routledge
Release : 2018-04-24
ISBN : 0429923732
Language : En, Es, Fr & De

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Book Description :

This book postulates that the trigger of the psychotic condition is located in the basic processes which structure the first emotional relations. It presents some of the reasons why patients succumb to the attraction of a course doomed to result in the permanent derangement of their minds.

Cleft Lip and Palate

Cleft Lip and Palate Book
Author : M.T. Cobourne
Publisher : Karger Medical and Scientific Publishers
Release : 2012-06-27
ISBN : 3318021083
Language : En, Es, Fr & De

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Book Description :

Cleft lip and palate is a complex, multifactorial and relatively common craniofacial disorder, which arises because of disrupted facial development in the embryo. The manifestations of this condition can be life-long and associated with significant morbidity. In the last decade, progress has been made in our understanding of how clefts of the lip and palate arise in human populations, and laboratory studies are beginning to elucidate the molecular mechanisms that control development of the lip and palate. In addition, advances in surgical and medical care, and long-term rehabilitation are improving outcome and quality of life for affected individuals. Written by international experts in their respective fields, this publication covers in detail the epidemiology and genetic basis of cleft lip and palate, the developmental biology of lip and palate formation and provides current concepts in the management of patients affected by this condition. Thus, the book provides a contemporary overview of the epidemiology, aetiology and treatment of cleft lip and palate, and will be of use to a wide range of individuals, including students, biologists and clinicians, who have an interest in this subject.

Oxford Desk Reference

Oxford Desk Reference Book
Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publisher : Oxford University Press, USA
Release : 2005
ISBN : 9780192628961
Language : En, Es, Fr & De

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Book Description :

Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

The Causes and Consequences of Chromosomal Aberrations

The Causes and Consequences of Chromosomal Aberrations Book
Author : Ilan R. Kirsch
Publisher : CRC Press
Release : 1992-12-21
ISBN : 9780849388934
Language : En, Es, Fr & De

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Book Description :

The Causes and Consequences of Chromosomal Aberrations explores one of the most dramatic examples of genomic instability-chromosomal aberrations. It describes some of the more recent techniques used to map genes within the human genome, study chromosomal aberrations at the cellular level, and define the organization of the interphase nucleus. General overviews are provided to build a conceptual framework for understanding the generality and specificity of chromosomal aberrations. The Causes and Consequences of Chromosomal Aberrations also explores the role of recombinases and topoisomerases in the development of chromosomal aberrations. It contains studies of chromosomal aberrations, which offer separate instructive treatises on specific malignancies. The Causes and Consequences of Chromosomal Aberrations is useful to medical and graduate students, physicians, molecular biologists, and cytogeneticists. It will benefit anyone interested in the concepts, contributions, and development in the field of molecular cytogenetics.

Missing Genetic Pieces

Missing Genetic Pieces Book
Author : Sherry Baker-Gomez
Publisher : Missing Genetic Pieces
Release : 2004
ISBN : 9780974535807
Language : En, Es, Fr & De

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Book Description :

VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.

Genetic Counseling Practice

Genetic Counseling Practice Book
Author : Bonnie LeRoy
Publisher : Unknown
Release : 2020-09
ISBN : 1119529859
Language : En, Es, Fr & De

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Book Description :

"Rapid increases in tests and technologies, media attention, and the expansion of genetic medicine and testing beyond conditions that are exclusively genetic in nature to common chronic illnesses with both genetic and environmental components (e.g., diabetes, heart disease, cancer), have raised demand for genetic counselling services and changing the scope of practice. Genetic counselors help individuals and families understand complex medical information, including diagnosis, prognosis, management options, risk, and heredity issues. They aid patients in decision-making while respecting ethical, familial, and cultural standards"--

Mutations in Human Genetic Disease

Mutations in Human Genetic Disease Book
Author : David Cooper,Jian-Min Chen
Publisher : BoD – Books on Demand
Release : 2012-10-12
ISBN : 9535107909
Language : En, Es, Fr & De

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Book Description :

Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.

Handbook of Pragmatic Language Disorders

Handbook of Pragmatic Language Disorders Book
Author : Louise Cummings
Publisher : Springer Nature
Release : 2022-10-01
ISBN : 3030749851
Language : En, Es, Fr & De

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Book Description :

Download Handbook of Pragmatic Language Disorders book written by Louise Cummings, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Cardioskeletal Myopathies in Children and Young Adults

Cardioskeletal Myopathies in Children and Young Adults Book
Author : John Lynn Jefferies,Burns Blaxall,Jeffrey Towbin,Jeffrey Robbins
Publisher : Academic Press
Release : 2016-10-22
ISBN : 0128005807
Language : En, Es, Fr & De

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Book Description :

Cardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40’s-50’s and the way they start to form in young adulthood. The Annals of Family Medicine report that approximately half of young adults have at least one cardiovascular disease risk factor (Mar 2010), and an increase in cardiovascular mortality rates in young adults was substantiated in a study at Northwestern Medicine (Nov 2011). Given the increasing recognition of genetic triggers behind all types of cardiovascular disease, and the growing population of young adults with primary or acquired myocardial disease, the need has arisen for a reference that offers a comprehensive approach to the understanding of basic, translational, and clinical aspects of specific muscle diseases while making the link between young adult and adult health. Reveals the link between cardiac muscle disease and skeletal muscle disease Explains how genetics and environmental factors effect muscle function of diverse origins Designates current and novel therapeutic strategies that target both cardiac and skeletal muscle systems