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The 22q11 2 Chromosome Deletion Syndrome

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The 22q11 2 Chromosome Deletion Syndrome

The 22q11  2 Chromosome Deletion Syndrome Book
Author : Donna M. McDonald-McGinn
Publisher : Academic Press
Release : 2020-03
ISBN : 9780128160473
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

DiGeorge Syndrome New Insights for the Healthcare Professional 2011 Edition

DiGeorge Syndrome  New Insights for the Healthcare Professional  2011 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2012-01-09
ISBN : 1464915709
Language : En, Es, Fr & De

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Book Description :

DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about DiGeorge Syndrome in a compact format. The editors have built DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about DiGeorge Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

DiGeorge Syndrome New Insights for the Healthcare Professional 2012 Edition

DiGeorge Syndrome  New Insights for the Healthcare Professional  2012 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2012-12-10
ISBN : 1464987017
Language : En, Es, Fr & De

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Book Description :

DiGeorge Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about DiGeorge Syndrome in a compact format. The editors have built DiGeorge Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about DiGeorge Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of DiGeorge Syndrome: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

SCARF2 and SNAP29

SCARF2 and SNAP29 Book
Author : Vafa Keser
Publisher : Unknown
Release : 2019
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

"22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous gene syndrome and is characterized by a 3 Mb de novo deletion of the chromosome 22q11.2 region in 90% of individuals. Patients are born with a number of congenital birth defects and malformations in various combinations that are different even within the same family where members carry the same deletion. The most common phenotypes seen in patients are facial dysmorphism (>90%), learning disability/mental retardation/developmental delay (90%), motor and/or speech delays (>90%), cardiovascular (50%-75%), palatal and related (75%), hypocalcemia and/or hypoparathyroidism (>60%), psychiatric disorders (60%) and recurrent infections (35%-40%). Additional findings, such as skin conditions, gastrointestinal or renal anomalies, various skeletal abnormalities, ophthalmological findings have also been shown. The common 3 Mb deletion removes approximately 45 functional genes, including a number of developmentally important genes. Two such genes that contribute to the congenital abnormalities are SCARF2 and SNAP29, which are known to be associated with congenital malformations in human patients without 22q11.2DS. Moreover, unmasking of rare variants in the non-deleted chromosome is associated with the phenotypic spectrum found in subset of the patients with 22q11.2DS. Studies in our and other laboratories showed that 22q11.2 deletion uncovered rare variants in SCARF2 and SNAP29 that resulted in manifestations of the recessive disorders Van den Ende-Gupta syndrome (VDEGS) and cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK), respectively, in 22q11.2DS patients, thus contributing variability in phenotypes in those patients. Different mouse models have been generated for the 22q11.2DS syntenic region in mouse chromosome 16, however, these only modeled a subset of the abnormalities seen in patients. Importantly, SCARF2 and SNAP29 were not included in those models because of the positional change of locations of the genes on the mouse chromosome.SCARF2 is a member of the scavenger receptor protein family, which are involved in a variety of cellular processes, including pathogen clearance and lipid transport. Although mutations in SCARF2 are associated with VDEGS, which is characterized by craniofacial and skeletal abnormalities some of which have also found in 22q11.2DS patients, the function of the gene is not clear. SNAP29 is a member of SNARE family of proteins involved in the maintenance of diverse membrane trafficking pathways. Unfortunately, current mutant mouse lines for Snap29 only model skin abnormalities of CEDNIK patients. We postulated that deletion of SNAP29 contributes to the phenotypic spectrum of abnormalities found in a subset of 22q11.2DS patients and aimed to characterize expression of this gene during mouse development and to generate a constitutive knockout mouse model to determine where and when Snap29 is required for normal development. In the present study, we describe mRNA expression for Scarf2 and Snap29 in different developmental stages in mice. We have generated a novel, constitutive Snap29 knockout mouse line, and the homozyous Snap29 lam1/lam1 (Snap29-/-) models the craniofacial malformations, skin and motor defects described in CEDNIK and in a subset of patients with 22q11.2DS. Using our Snap29 lam1/lam1 mutant mouse line we have uncovered a novel requirement for Snap29 in male fertility. Unlike previous Snap29 mouse models, Snap29lam/lam survived until adulthood, allowing us to study both neonatal and postnatal phenotypes and to gain insight on the etiology of a subset of abnormalities found in patients with mutations in SNAP29. Our study shows that hemizygosity for SCARF2 and SNAP29 might contribute to the phenotypic spectrum of abnormalities found in a subset of 22q11.2DS patients that cannot be explained using previously generated mouse models"--

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

Chromosomal Abnormalities

Chromosomal Abnormalities Book
Author : Source Wikipedia
Publisher : University-Press.org
Release : 2013-09
ISBN : 9781230835020
Language : En, Es, Fr & De

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Book Description :

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 52. Chapters: Down syndrome, Turner syndrome, Trisomy, XYY syndrome, Warkany syndrome 2, Beckwith-Wiedemann syndrome, Klinefelter's syndrome, Williams syndrome, 1p36 deletion syndrome, Aneuploidy, 1q21.1 deletion syndrome, Edwards syndrome, Philadelphia chromosome, Patau syndrome, 22q13 deletion syndrome, Smith-Magenis syndrome, 1q21.1 duplication syndrome, Triple X syndrome, 17q21.3 recurrent microdeletion syndrome, WAGR syndrome, Cri du chat, Pallister-Killian syndrome, XXYY syndrome, 48, XXXX, Wolf-Hirschhorn syndrome, Y chromosome microdeletion, Chromosome abnormality, 22q11.2 duplication syndrome, XX male syndrome, Chromosome 5q deletion syndrome, Miller-Dieker syndrome, 49, XXXXY syndrome, TAR syndrome, 3q29 microdeletion syndrome, Trisomy 9, 2q37 monosomy, 49, XXXXX, Jacobsen syndrome, Asymmetric crying facies, Trisomy 16, Potocki-Shaffer syndrome, Emanuel syndrome, 2p15-16.1 microdeletion syndrome, Polysomy, Tetrasomy, Monosomy 14, Trisomy 22.

Theory of Mind in Youth and Emerging Adults with Chromosome 22q11 2 Deletion Syndrome with and Without Comorbid Mood Disorder

Theory of Mind in Youth and Emerging Adults with Chromosome 22q11 2 Deletion Syndrome  with and Without Comorbid Mood Disorder Book
Author : Amy K. Olszewski
Publisher : Unknown
Release : 2014
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Mood disorders are some of the most commonly diagnosed psychiatric disorders in childhood and adolescence. Major Depressive Disorder (MDD) and Bipolar Disorder (BPD) have become more widely recognized in children and adolescents in recent years and are especially common in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). Disruptions in social functioning are a common feature of mood disorders, including social withdrawal and loss of interest in activities that the individual typically experiences as pleasurable (anhedonia). Studies of individuals with 22q11.2DS also show they experience difficulty with social functioning, as well as social cognition, visuospatial, and executive functioning tasks. Studies of theory of mind (ToM) ability in youth and emerging adults with 22q11.2DS and comorbid mood disorder remain elusive, and a better understanding of whether or not social cognition plays a role in the development of mood disorders may help provide a target area for treatment. This study investigated the social, visuospatial, ToM, and executive functioning abilities of 15 youth and emerging adults with 22q11.2DS who met inclusion criteria for mood disorders and 46 individuals with 22q11.2DS with no mood disorder. These results were compared with the results from 22 unaffected sibling and 26 unaffected community controls. A multiple mediator model examining the contributions of visuospatial, social, ToM, and executive functioning to a diagnosis of mood disorder indicated that social functioning was the only significant mediator. Youth and emerging adults with 22q11.2DS and a comorbid mood disorder did not demonstrate greater deficits in visuospatial, ToM, or executive functioning skills relative to individuals with 22q11.2DS only. However, youth and emerging adults with 22q11.2DS and comorbid mood disorder did show greater social deficits on both the SRS and VABS-II Socialization Index. Correlational analyses demonstrated few significant associations between visuospatial and adaptive functioning, while several significant moderate positive associations were found between executive and adaptive functioning, particularly in the group of individuals with 22q11.2DS and no mood disorder. ToM performance was not significantly associated with adaptive functioning measures. Results confirmed that greater deficits in social functioning were associated with mood disorder diagnosis, and highlight the importance of early social skills intervention for individuals with 22q11.2DS.

The Development of Cognitive Control and Its Neural Correlates in Children with Chromosome 22q11 2 Deletion Syndrome

The Development of Cognitive Control and Its Neural Correlates in Children with Chromosome 22q11 2 Deletion Syndrome Book
Author : Heather Mehle Shapiro
Publisher : Unknown
Release : 2013
ISBN : 9781303443800
Language : En, Es, Fr & De

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Book Description :

Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is a neurogenetic disorder that is associated with cognitive dysfunction and significantly elevated risk for developing schizophrenia. A better understanding of specific neurocognitive impairments and their developmental time course would significantly clarify the nature of cognitive dysfunction in this population and help support the construction of diagnostic and therapeutic tools that will ultimately help individuals with the disorder. One approach for characterizing the development of neurocognitive processes in humans is through the use of established behavioral paradigms that are known to target specific cognitive networks, as evidenced by human and animal studies, as well as multi-modal research methods including behavior and brain imaging. The following chapters explore the development of high-level cognitive control networks in a cross-sectional analysis of children with 22q11.2DS and typically developing children, across an age range of 7 - 14 years. This is a critical period of development in this population, both for neurocognitive and academic milestones, as well as with regard to entering a zone of critical risk for conversion to schizophrenia in the later teenage years. Here we applied targeted behavioral paradigms for examining the development of specific neurocognitive control networks in children with 22q11.2DS across this age range. A final chapter provides an initial investigation into the functional integrity of the neural architecture supporting cognitive control in children with 22q11.2DS through functional magnetic resonance imaging. Collectively, these studies improve our understanding of the development of cognitive control and its neural correlates in children with 22q11.2DS.

Thymus Gland Pathology

Thymus Gland Pathology Book
Author : Corrado Lavini,Cesar A. Moran,Uliano Morandi,Rudolf Schoenhuber
Publisher : Springer Science & Business Media
Release : 2009-05-08
ISBN : 9788847008281
Language : En, Es, Fr & De

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Book Description :

The thymus is a gland that over the last two centuries has generated great awareness not only from the anatomical perspective but also for the physiological and pat- logical roles it plays in many disease processes. Prior to the early studies on its th anatomy and physiology in the 18 century, the thymus was believed to perform - usual and curious functions such as purification of the nervous system, providing a protective cushion for the vasculature of the superior mediastinum, fetal nouri- ment, or more spiritual roles such as being the seat of the soul, among others. D- th ing the 19 century important anatomical/physiological studies took place focusing on the role of the thymus in pathological conditions. However, it was not until the th middle of the 19 century that a more comprehensive analysis of the role of the thymic gland and its role in pathogenesis began to emerge. Currently, while the knowledge gained on the diverse aspects of the thymic gland has furthered our understanding of its role in a gamut of processes, more knowledge is still being sought, and by no means is a full understanding of the gland’s physi- ogy and pathology complete. Different aspects, including its purported endocrine function, its association with other autoimmune diseases like multiple sclerosis, rheumatoid arthritis, and lupus erythematosus, among others, are under evaluation and research.

Acta oto rhino laryngologica Belgica

Acta oto rhino laryngologica Belgica Book
Author : Anonim
Publisher : Unknown
Release : 2001
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Acta oto rhino laryngologica Belgica book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

22q11 DELETION SYNDROME IN IRELAND U2013 REVIEW OF A NEWLY ESTABLISHED DEDICATED CLINIC

22q11 DELETION SYNDROME IN IRELAND U2013 REVIEW OF A NEWLY ESTABLISHED DEDICATED CLINIC  Book
Author : Anonim
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

22q11 DELETION SYNDROME IN IRELAND u2013 REVIEW OF A NEWLY ESTABLISHED DEDICATED CLINICS. McCormacku00b9, D.Orru00b2, F.McNicholasu00b3, R. Leahyu2074, S. Kelleheru00b9u00b9Department of General/Developmental Paediatrics, Our Ladyu2019s Childrenu2019s Hospital Crumlin, Dublinu00b2Department of Plastic Surgery, Our Ladyu2019s Childrenu2019s Hospital Crumlin, Dublinu00b3Department of Child Psychiatry, Our Ladyu2019s Childrenu2019s Hospital Crumlin, Dublinu2074Department of Immunology, Our Ladyu2019s Childrenu2019s Hospital Crumlin, DublinBackground22q11 Deletion Syndrome is the most common microdeletion syndrome in humans, with a prevalence of 1 in 2000-4000u00b9. Medical care for this population is frequently fragmented, a dedicated clinic has been shown in other centres to be associated with reduced morbidity and improved quality of lifeu00b3. A need for this clinic was identified in Ireland.AimOur aim is to establish if a dedicated clinic can identify and address unmet needs within this population.MethodThe intake forms and letters of all new referrals seen in the first six months were reviewed. Previous specialty input along with referrals made and investigations requested were recorded. Parents reported unmet needs and wishes were also recorded.ResultsIn the first 6 months of the 22q11DS Clinic 17 children were assessed. The attendance rate was 94%. Children attended from 8 counties around Ireland, aged from 8 months to 14 years. 18% of children had an affected relative(s). Parents reported a range of unmet needs and there was huge variation in previous access to services. Following their first assessment the following were requested: Blood testing (71%), renal ultrasound (29%), and specialist referrals (53%), most commonly to cardiology, immunology and dental. 29% of children had their appointment co-ordinated with another specialist on the same day.ConclusionWe have identified areas of unmet need in this dedicated clinic. It is hoped that we can improve care co-ordination further by engaging other specialists to run clinics on the same day and appoint a nurse specialist for this clinic.u00b9 McDonald-McGinn and Sullivan. Chromosome 22q11.2 Deletion Syndrome. Medicine. 90(1):1-18, JAN 2011u00b2Max Appeal! Consensus Document Development Committee. Consensus Document on 22q11 Deletion Syndrome (22q11DS). 2017u00b3 Alex Habel, Beverly Tsai-Goodman et al. Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur J Pediatr. 2014; 173(6): 757u2013765.

Cassidy and Allanson s Management of Genetic Syndromes

Cassidy and Allanson s Management of Genetic Syndromes Book
Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Release : 2021-01-27
ISBN : 1119432677
Language : En, Es, Fr & De

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Book Description :

The most recent update to one of the most essential references on medical genetics Cassidy and Allanson's Management of Genetic Syndromes, 4th 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 for students, clinicians, and researchers in the field of medical genetics. The 4th 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. Each, "expert authored", 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 health care professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Genome Research

Genome Research Book
Author : Anonim
Publisher : Unknown
Release : 2007
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Download Genome Research book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Hereditary Hearing Loss and Its Syndromes

Hereditary Hearing Loss and Its Syndromes Book
Author : Helga V. Toriello,Shelley D. Smith
Publisher : Oxford University Press
Release : 2013-08-08
ISBN : 0199731969
Language : En, Es, Fr & De

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Book Description :

This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.

Immune Defects in Chromosome 22q11 2 Deletion Syndromes

Immune Defects in Chromosome 22q11 2 Deletion Syndromes Book
Author : Nicola A. Bobey
Publisher : Unknown
Release : 2010
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Immune Defects in Chromosome 22q11 2 Deletion Syndromes book written by Nicola A. Bobey, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Noninfectious Immunodeficiency Related Cutaneous Conditions

Noninfectious Immunodeficiency Related Cutaneous Conditions Book
Author : Source Wikipedia
Publisher : University-Press.org
Release : 2013-09
ISBN : 9781230511252
Language : En, Es, Fr & De

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Book Description :

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 26. Chapters: Bare lymphocyte syndrome, Cartilage-hair hypoplasia, CD25 deficiency, Chediak-Higashi syndrome, Chronic granulomatous disease, Common variable immunodeficiency, Complement deficiency, DiGeorge syndrome, Graft-versus-host disease, Griscelli syndrome, Hyperimmunoglobulin E syndrome, Immunodeficiency with hyperimmunoglobulin M, Immunodeficiency-centromeric instability-facial anomalies syndrome, Isolated primary immunoglobulin M deficiency, Janus kinase 3 deficiency, Leukocyte adhesion molecule deficiency, LIG4 syndrome, Myeloperoxidase deficiency, Neutrophil immunodeficiency syndrome, Nezelof syndrome, Omenn syndrome, Purine nucleoside phosphorylase deficiency, Reticular dysgenesis, Selective immunoglobulin A deficiency, Severe combined immunodeficiency, Shwachman-Bodian-Diamond syndrome, Thymic hypoplasia, Thymoma with immunodeficiency, Transient hypogammaglobulinemia of infancy, WHIM syndrome, Wiskott-Aldrich syndrome, X-linked hyper-immunoglobulin M syndrome, X-linked lymphoproliferative disease. Excerpt: 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia, is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated 22q11.2-signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. It has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus (see TOF). The features of this syndrome vary widely, even among members of the same...

Velo Cardio Facial Syndrome

Velo Cardio Facial Syndrome Book
Author : Robert J. Shprintzen,Karen J. Golding-Kushner
Publisher : Plural Publishing
Release : 2008-07-01
ISBN : 1597567612
Language : En, Es, Fr & De

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Book Description :

Download Velo Cardio Facial Syndrome book written by Robert J. Shprintzen,Karen J. Golding-Kushner, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Patient based Approaches to Cognitive Neuroscience

Patient based Approaches to Cognitive Neuroscience Book
Author : Martha J. Farah,Todd E. Feinberg
Publisher : Bradford Books
Release : 2006
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

The cognitive disorders that follow brain damage are an important source of insights into the neural bases of human thought. This work offers state-of-the-art reviews of the patient-based approach to central issues in cognitive neuroscience by leaders in the field.

Persistent Low Thymic Activity and Non cardiac Mortality in Children with Chromosome 22q11 2 Microdeletion and Partial DiGeorge Syndrome

Persistent Low Thymic Activity and Non cardiac Mortality in Children with Chromosome 22q11 2 Microdeletion and Partial DiGeorge Syndrome Book
Author : Patric Olivier Eberle
Publisher : Unknown
Release : 2009
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Persistent Low Thymic Activity and Non cardiac Mortality in Children with Chromosome 22q11 2 Microdeletion and Partial DiGeorge Syndrome book written by Patric Olivier Eberle, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.