X & Y Chromosomal Variations PDF Download

Author: Carole A. Samango-Sprouse
Publisher: Biota Publishing
ISBN: 1615046917
Category : Medical
Languages : en
Pages : 138

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Book Description
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.

Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309132975
Category : Medical
Languages : en
Pages : 287

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Book Description
It's obvious why only men develop prostate cancer and why only women get ovarian cancer. But it is not obvious why women are more likely to recover language ability after a stroke than men or why women are more apt to develop autoimmune diseases such as lupus. Sex differences in health throughout the lifespan have been documented. Exploring the Biological Contributions to Human Health begins to snap the pieces of the puzzle into place so that this knowledge can be used to improve health for both sexes. From behavior and cognition to metabolism and response to chemicals and infectious organisms, this book explores the health impact of sex (being male or female, according to reproductive organs and chromosomes) and gender (one's sense of self as male or female in society). Exploring the Biological Contributions to Human Health discusses basic biochemical differences in the cells of males and females and health variability between the sexes from conception throughout life. The book identifies key research needs and opportunities and addresses barriers to research. Exploring the Biological Contributions to Human Health will be important to health policy makers, basic, applied, and clinical researchers, educators, providers, and journalists-while being very accessible to interested lay readers.

Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104

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Book Description
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth 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 in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth 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. Written by experts, each 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 healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Author: R. J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 0199329001
Category : Medical
Languages : en
Pages : 729

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Book Description
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.

Author: Constantine A. Stratakis
Publisher: Academic Press
ISBN: 0128145382
Category : Science
Languages : en
Pages : 312

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Book Description
Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review of the molecular biology of gigantism and acromegaly as well as recommended approaches to evaluation and management. Acromegaly is a rare pituitary disorder that slowly changes its adult victim's appearance over time: larger hands and feet, bigger jaw, forehead, nose, and lips. Generally, a benign pituitary tumor is the cause and symptoms of acromegaly can vary from patient to patient, making a diagnosis difficult and prolonging suffering for years. Early detection is key in the management of acromegaly as the pathologic effects of increased growth hormone (GH) production are progressive and can be life-threatening as the result of associated cardiovascular, cerebrovascular, and respiratory disorders and malignancies. - Accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of acromegaly and gigantism - Provides a unique compendium of endocrinology, genetics, clinical diagnosis and therapeutics - Contains contributions from internationally known experts who have treated patients with acromegaly and gigantism

Author: Mark Harries
Publisher: Oxford University Press, USA
ISBN: 9780192632364
Category : Sports medicine
Languages : en
Pages : 0

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Book Description
HIGHLY COMMENDED IN THE 1999 BMA AWARDS. Available in paperback for the first time, the second edition of this well-referenced and unique textbook of sports science and medicine. The book covers the principles of sports physiology and internal medicine as it relates to athletes and theirperformance, orthopaedics and injuries to the soft tissues, and the physiological basis of training and fitness maintenance. With a distinguished and authoritative panel of authors, the multidisciplinary, international approach has a practical emphasis on the treatment of sports injuries.The second edition of this popular textbook has been fully up-dated and restructured for increased ease-of-use and will include new sections on: Body composition (both how to measure it and how to apply the information; Mechanical tests (how to do them and what they show); Immunological aspects ofsport; Overtraining.From reviews of 2nd edition: 'All in all, this is an excellent book. Its strengths lie in the very scientific presentation on exercise physiology, followed by detailed and practical discussions of virtually all acute sports injuries. I believe this is a textbook that should be in the library ofall sports medicine departments in Canadian universities...' Canadian Medical Association. 'A comprehensive and high quality textbook which I feel can justifiably call itself the main reference text in sports medicine now...' Rheumatology in Europe. From reviews of 1st edition: 'This OxfordTextbook is an authoritative and major volume; a landmark in sports medicine, and indeed its gold standard. It is a magnificent text with a wealth of household names among the authors, and an extremely high standard of writing. The four editors and Oxford University Press are to be congratulated.'Journal of Sports Medicine. 'all-star cast of contributors' Official Journal of the American College of Sports Medicine. 'This comprehensive textbook will be a useful resource for any medical practitioner interested in the treatment of patients who participate in amateur or professional sports.The is an excellent reference for specialists, specialists in training , and general practioners.' Annals RCPSC. 'The Oxford Textbook of Sports Medicine is a multi-authored multi-editor volume that embraces many aspects of sports medicine, concentrating mainly on sports injuries, with a definiteNorth American and British flavour. The book is an excellent overview of the advances that have occured in the past half century or so, giving the reader sound grounding in the basic science knowledge necessary to back up clinical practice. The great advantage of the Oxford Textbook of SportsMedicine is that the various topics are all together, and can be used as a useful initial landmark for further more specialised reading.' BMJ

Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650

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Book Description
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.

Author: Torbjoern Caspersson
Publisher: Elsevier
ISBN: 0323162673
Category : Science
Languages : en
Pages : 357

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Book Description
Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.

Author: Karen Sermon
Publisher: Cambridge University Press
ISBN: 1107683580
Category : Medical
Languages : en
Pages : 217

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Book Description
This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.

Author: Virginia Isaacs Cover Msw
Publisher: Virginia Isaacs Cover
ISBN: 9780615574004
Category : Health & Fitness
Languages : en
Pages : 202

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Book Description
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.