The Chromosome Disorders

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Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Author : R.J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 019932901X
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner

Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Disorders and the Fetus

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
ISBN 13 : 1468434381
Total Pages : 718 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

Chromosome Abnormalities and Genetic Counseling

Author : R.J. MKinlay Gardner
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner

Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Basics of Abdominal, Gynaecological, Obstetrics and Small Parts Ultrasound

Author : Rajendra K. Diwakar
Publisher : Springer
ISBN 13 : 9811048738
Total Pages : 161 pages
Book Rating : 4.8/5 (11 download)

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Book Synopsis Basics of Abdominal, Gynaecological, Obstetrics and Small Parts Ultrasound by : Rajendra K. Diwakar

Download or read book Basics of Abdominal, Gynaecological, Obstetrics and Small Parts Ultrasound written by Rajendra K. Diwakar and published by Springer. This book was released on 2017-12-29 with total page 161 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers an essential guide for postgraduates, obstetricians and gynaecologists (including teaching faculty), helping them develop workflows for the early detection and assessment of high-risk pregnancies & pregnancy with IUGR using colour Doppler applications and transfontenellar cranial sonography in premature new-borns during routine ultrasonography. This book familiarizes practicing radiologists and Ob-Gyn specialists with this aspect of sonography, so as to improve perinatal outcomes.

Genes, Chromosomes, and Disease

Author : Nicholas Wright Gillham
Publisher : FT Press
ISBN 13 : 0132623242
Total Pages : 353 pages
Book Rating : 4.1/5 (326 download)

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Book Synopsis Genes, Chromosomes, and Disease by : Nicholas Wright Gillham

Download or read book Genes, Chromosomes, and Disease written by Nicholas Wright Gillham and published by FT Press. This book was released on 2011-03-15 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: This very readable overview of the rise and transformations of medical genetics and of the eugenic impulses that have been inspired by the emerging understanding of the genetic basis of many diseases and disabilities is based on a popular nonmajors course, "Social Implications of Genetics," that Gillham gave for many years at Duke University. The book is suitable for use as a text in similar overview courses about genes and social issues or genes and disease. It gives a good overview of the developments and status of this field for a wide range of biomedical researchers, physicians, and students, especially those interested in the prospects for the new, genetics-based personalized medicine.

Cytogenetic Abnormalities

Author : Susan Mahler Zneimer
Publisher : John Wiley & Sons
ISBN 13 : 1118412567
Total Pages : 672 pages
Book Rating : 4.1/5 (184 download)

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Book Synopsis Cytogenetic Abnormalities by : Susan Mahler Zneimer

Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-08-21 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Cardioskeletal Myopathies in Children and Young Adults

Author : John Lynn Jefferies
Publisher : Academic Press
ISBN 13 : 0128005807
Total Pages : 422 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Cardioskeletal Myopathies in Children and Young Adults by : John Lynn Jefferies

Download or read book Cardioskeletal Myopathies in Children and Young Adults written by John Lynn Jefferies and published by Academic Press. This book was released on 2016-10-22 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

The Chromosome 22q11.2 Deletion Syndrome

Author : Donna M. McDonald-McGinn
Publisher : Academic Press
ISBN 13 : 0128160489
Total Pages : 526 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis The Chromosome 22q11.2 Deletion Syndrome by : Donna M. McDonald-McGinn

Download or read book The Chromosome 22q11.2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

X & Y Chromosomal Variations

Author : Carole A. Samango-Sprouse
Publisher : Biota Publishing
ISBN 13 : 1615046917
Total Pages : 138 pages
Book Rating : 4.6/5 (15 download)

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Book Synopsis X & Y Chromosomal Variations by : Carole A. Samango-Sprouse

Download or read book X & Y Chromosomal Variations written by Carole A. Samango-Sprouse and published by Biota Publishing. This book was released on 2016-10-11 with total page 138 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.

Genetic Disorders, Syndromology and Prenatal Diagnosis

Author : T.V.N. Persaud
Publisher : Springer Science & Business Media
ISBN 13 : 9401166692
Total Pages : 257 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis Genetic Disorders, Syndromology and Prenatal Diagnosis by : T.V.N. Persaud

Download or read book Genetic Disorders, Syndromology and Prenatal Diagnosis written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.

MRCOG Part One

Author : Alison Fiander
Publisher : Cambridge University Press
ISBN 13 : 1107667135
Total Pages : 557 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis MRCOG Part One by : Alison Fiander

Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.

Chromosome Abnormalities and Genetic Counseling

Author : R. J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 0199725241
Total Pages : 596 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R. J. McKinlay Gardner

Download or read book Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2003-08-28 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Disorders Among Arab Populations

Author : Ahmad S. Teebi
Publisher : Oxford University Press, USA
ISBN 13 : 9780195093056
Total Pages : 538 pages
Book Rating : 4.0/5 (93 download)

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Book Synopsis Genetic Disorders Among Arab Populations by : Ahmad S. Teebi

Download or read book Genetic Disorders Among Arab Populations written by Ahmad S. Teebi and published by Oxford University Press, USA. This book was released on 1997 with total page 538 pages. Available in PDF, EPUB and Kindle. Book excerpt: Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.

Handbook of Neurodevelopmental and Genetic Disorders in Adults

Author : Sam Goldstein
Publisher : Guilford Press
ISBN 13 : 1593852061
Total Pages : 509 pages
Book Rating : 4.5/5 (938 download)

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Book Synopsis Handbook of Neurodevelopmental and Genetic Disorders in Adults by : Sam Goldstein

Download or read book Handbook of Neurodevelopmental and Genetic Disorders in Adults written by Sam Goldstein and published by Guilford Press. This book was released on 2005-08-24 with total page 509 pages. Available in PDF, EPUB and Kindle. Book excerpt: While neurodevelopmental and genetic disorders are often diagnosed in childhood, understanding and managing the impact of these conditions is a lifelong challenge. This authoritative handbook presents cutting-edge knowledge to guide effective assessment and treatment throughout the adult years. Illuminated are the neurobiological bases and clinical characteristics of a broad range of conditions that affect learning and behavior as well as physical functioning and health. Following a consistent format, chapters comprehensively describe the developmental course of each disorder, the changing needs of adults, and ways to help them harness their strengths.

Comparative Mammalian Cytogenetics

Author : Kurt Bernischke
Publisher : Springer Science & Business Media
ISBN 13 : 3642859437
Total Pages : 494 pages
Book Rating : 4.6/5 (428 download)

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Book Synopsis Comparative Mammalian Cytogenetics by : Kurt Bernischke

Download or read book Comparative Mammalian Cytogenetics written by Kurt Bernischke and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ten years ago a symposium on Cytotaxonomy 'was held in London (Proc. Linn. Soc. Lond. 169:110, 1958) in which a first attempt was made to bring together various disciplines to discuss advances of mammalian cytogenetics and to put them into proper context with the sciences of evolution and taxonomy. The introductory remarks by \V. B. Turrill to that symposium, essentially an admonishment to be tolerant of the short comings of our respective disciplines, would be a most appropriate begin ning to this conference as ,,'ell. However, the meeting held at Hanover was conceived more along the lines of remarks made by R. B. Seymour Se,,'ell in his presidential address to the same society: "It has been said that scientists in this search for truth are nowadays too much concerned with the accumulation of facts, and make too little use of their imagina tion in their attempts to explain such facts as they have accumulated. " (In "The continental drift theory and the distribution of the Copepoda," ibid. 166:149, 1956. ) \\Tith this as a background, two years ago we held the first of a series of loosely-structured conferences on reproductive failure in the relaxing atmosphere of this small New England college community. The manu scripts of that meeting have been published (Comparative Aspects of Re productive Failure, Springer-Verlag New York Inc. , 1967).

Preventive Health Care for Children with Genetic Conditions

Author : Golder Wilson
Publisher : Cambridge University Press
ISBN 13 : 9780521617345
Total Pages : 588 pages
Book Rating : 4.6/5 (173 download)

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Book Synopsis Preventive Health Care for Children with Genetic Conditions by : Golder Wilson

Download or read book Preventive Health Care for Children with Genetic Conditions written by Golder Wilson and published by Cambridge University Press. This book was released on 2006-05-11 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: An invaluable, structured approach to the preventive care of children with congenital disorders.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

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Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics