X & Y Chromosomal Variations PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download X & Y Chromosomal Variations PDF full book. Access full book title X & Y Chromosomal Variations by Carole A. Samango-Sprouse. Download full books in PDF and EPUB format.
Author: Carole A. Samango-Sprouse
Publisher: Biota Publishing
ISBN: 1615046917
Category : Medical
Languages : en
Pages : 138
Get Book Here
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: Carole A. Samango-Sprouse
Publisher: Biota Publishing
ISBN: 1615046917
Category : Medical
Languages : en
Pages : 138
Get Book Here
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: Constantine A. Stratakis
Publisher: Academic Press
ISBN: 0128145382
Category : Science
Languages : en
Pages : 312
Get Book Here
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: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650
Get Book Here
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: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104
Get Book Here
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: Mark Harries
Publisher:
ISBN: 9780192627179
Category : Medical
Languages : en
Pages : 0
Get Book Here
Book Description
A 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 their performance, orthopaedics and injuries to the soft tissues, and the physiological basis oftraining 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 increasedease of use and will include new sections on: Body composition, mechanical tests, immunological aspects of sport, and overtraining.
Author: R. J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 0199329001
Category : Medical
Languages : en
Pages : 729
Get Book Here
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:
Publisher: Academic Press
ISBN: 0128115041
Category : Science
Languages : en
Pages : 396
Get Book Here
Book Description
Sex Determination, Volume 134, the latest release in the Current Topics in Developmental Biology series, contains current reviews in the field of vertebrate sex determination. It covers molecular pathways of sex determination in genetic and environmental species and encompasses both sex determination of somatic lineages and commitment of germ cells to male or female fate. Chapters in this new release cover, amongst other topics, Mapping the Sox9 Enhancer Elements, Epigenetic Regulation of Sex Determination, Evolution and Management of Sex Chromosomes, Regulation of Germ Cell Sex Identity in Medaka, Control of Sex Determination in Zebrafish, Sexually Dimorphic Germ Cell Identity in Mammals, and more. - Contains reviews written by leading experts in each field - Includes informative figures that illustrate principle points that are useful for teaching - Written in a style that is clear and simple
Author: International Standing Committee on Human Cytogenetic Nomenclature
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318022535
Category : Medical
Languages : en
Pages : 148
Get Book Here
Book Description
This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.
Author: Virginia Isaacs Cover Msw
Publisher: Virginia Isaacs Cover
ISBN: 9780615574004
Category : Health & Fitness
Languages : en
Pages : 202
Get Book Here
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.
Author: Karen Sermon
Publisher: Cambridge University Press
ISBN: 1107683580
Category : Medical
Languages : en
Pages : 217
Get Book Here
Book Description
This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.
