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 : 0199329001
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 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.

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.

Handbook of Chromosomal Syndromes

Author : G. Shashidhar Pai
Publisher : Wiley-Liss
ISBN 13 :
Total Pages : 384 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Handbook of Chromosomal Syndromes by : G. Shashidhar Pai

Download or read book Handbook of Chromosomal Syndromes written by G. Shashidhar Pai and published by Wiley-Liss. This book was released on 2003 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Each syndrome entry includes a description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics." -- Back cover.

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.

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.

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

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.

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.

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.

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

The Causes and Consequences of Chromosomal Aberrations

Author : Ilan R. Kirsch
Publisher : CRC Press
ISBN 13 : 9780849388934
Total Pages : 556 pages
Book Rating : 4.3/5 (889 download)

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Book Synopsis The Causes and Consequences of Chromosomal Aberrations by : Ilan R. Kirsch

Download or read book The Causes and Consequences of Chromosomal Aberrations written by Ilan R. Kirsch and published by CRC Press. This book was released on 1992-12-21 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Disorders Among Arab Populations

Author : Ahmad S. Teebi
Publisher :
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 . 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.

The Handbook of Language and Speech Disorders

Author : Nicole Müller
Publisher : John Wiley & Sons
ISBN 13 : 1118448715
Total Pages : 674 pages
Book Rating : 4.1/5 (184 download)

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Book Synopsis The Handbook of Language and Speech Disorders by : Nicole Müller

Download or read book The Handbook of Language and Speech Disorders written by Nicole Müller and published by John Wiley & Sons. This book was released on 2012-07-10 with total page 674 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Handbook of Speech and Language Disorders presents a comprehensive survey of the latest research in communication disorders. Contributions from leading experts explore current issues, landmark studies, and the main topics in the field, and include relevant information on analytical methods and assessment. A series of foundational chapters covers a variety of important general principles irrespective of specific disorders. These chapters focus on such topics as classification, diversity considerations, intelligibility, the impact of genetic syndromes, and principles of assessment and intervention. Other chapters cover a wide range of language, speech, and cognitive/intellectual disorders.

Cardioskeletal Myopathies in Children and Young Adults

Author : John Lynn Jefferies
Publisher : Academic Press
ISBN 13 : 9780128000403
Total Pages : 0 pages
Book Rating : 4.0/5 (4 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 2016-11-09 with total page 0 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.

Concepts of Biology

Author : Samantha Fowler
Publisher :
ISBN 13 : 9781739015503
Total Pages : 0 pages
Book Rating : 4.0/5 (155 download)

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Book Synopsis Concepts of Biology by : Samantha Fowler

Download or read book Concepts of Biology written by Samantha Fowler and published by . This book was released on 2023-05-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Black & white print. Concepts of Biology is designed for the typical introductory biology course for nonmajors, covering standard scope and sequence requirements. The text includes interesting applications and conveys the major themes of biology, with content that is meaningful and easy to understand. The book is designed to demonstrate biology concepts and to promote scientific literacy.

Orphan

Author : Philip Reilly
Publisher :
ISBN 13 : 9781621821373
Total Pages : 0 pages
Book Rating : 4.8/5 (213 download)

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Book Synopsis Orphan by : Philip Reilly

Download or read book Orphan written by Philip Reilly and published by . This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book is about the struggle to save the lives of children who, because of a roll of the genetic dice, are born with any one of more than several thousand rare genetic disorders. It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases. In many cases just a few physician-scie

Living with Klinefelter Syndrome, Trisomy X, and 47, Xyy: A Guide for Families and Individuals Affected by X and Y Chromosome Variations

Author : Virginia Isaacs Cover Msw
Publisher : Virginia Isaacs Cover
ISBN 13 : 9780615574004
Total Pages : 202 pages
Book Rating : 4.5/5 (74 download)

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Book Synopsis Living with Klinefelter Syndrome, Trisomy X, and 47, Xyy: A Guide for Families and Individuals Affected by X and Y Chromosome Variations by : Virginia Isaacs Cover Msw

Download or read book Living with Klinefelter Syndrome, Trisomy X, and 47, Xyy: A Guide for Families and Individuals Affected by X and Y Chromosome Variations written by Virginia Isaacs Cover Msw and published by Virginia Isaacs Cover. This book was released on 2012-03 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive guide to X and Y chromosome aneuploidy is written in lay language for affected individuals and their families, providing an authoritative volume that explains X and Y chromosome variations in clear and accurate terms. These surprisingly common genetic conditions, affecting 1 in 500 individuals, include Klinefelter syndrome, Trisomy X and 47,XYY. This guide provides a lifespan approach to the three trisomy conditions, as well as their less common variations involving 48 and 49 chromosomes. Readers are provided clear explanations of the genetics involved, diagnosis and disclosure issues, development from infancy through early adulthood, potential health and fertility concerns, and educational and psychosocial considerations. The text is illustrated with actual quotations from those who live with the disorders, and provides not only descriptions of potential concerns, but also strategies for successfully addressing the challenges that may develop.