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.

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.

Download or read book Drosophila Inversion Polymorphism written by Costas B. Krimbas and published by CRC Press. This book was released on 1992-08-21 with total page 680 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inversion polymorphism in Drosophila has long served as a research subject for a variety of evolutionary studies and continues to be extremely important in understanding evolutionary principles today. Until now, no single volume has ever been assembled as a summary of this work. Drosophila Inversion Polymorphism provides background information, explores new and rigorous approaches to reconstructing phylogenetic relationships from inversion variation, and discusses inversion polymorphism in the six most studied species groups. Some chapters examine general principles and conclusions, some present detailed data sets (many of which have never before been published), and others offer detailed chromosome maps for identification. The book is a one-of-a-kind source of summary discussions and data ripe for analysis. Geneticists, evolutionary biologists, biologists, and all investigators researching inversion polymorphisms should consider Drosophila Inversion Polymorphism a "must-have" volume.

Download or read book Hybrid Zones and the Evolutionary Process written by Richard Gerald Harrison and published by Oxford University Press, USA. This book was released on 1993 with total page 378 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hybrid zones--geographical areas in which the hybrids of two races are found--have attracted the attention of evolutionary biologists for many years, both because they are windows on the evolutionary process and because the patterns of animals and plant variation seen in hybrid zones do notfit the traditional classification schemes of taxonomists. Hybrid zones provide insights into the nature of the species, the way barriers to gene exchange function, the genetic basis of those barriers, the dynamics of the speciation process. Hybrid Zones and the Evolutionary Process synthesizes theextensive research literature in this field and points to new directions in research. It will be read with interest by evolutionary biologists, geneticists, and biogeographers.

Download or read book Genetics for Surgeons written by Patrick John Morrison and published by Remedica. This book was released on 2005 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).

Download or read book Human Chromosome Variation Heteromorphism and Polymorphism written by Herman E. Wyandt and published by Springer Science & Business Media. This book was released on 2011-08-20 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised version has updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and “not-so-normal” variations of the human karyotype with summaries and extensive reference lists organized by chromosome number. This updated edition features concise background information on chromosome methods and applications, essential information on heteromorphism frequencies in normal and clinical populations as well as new listing and discussions of euchromatic, subtelomeric and FISH variants. The addition of two new sections make this an even more valuable reference than before. A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization. A new section on array CGH discusses the clinical challenge of interpreting copy number variations (CNVs) revealed by this newest technology, gives examples of various levels of interpretation and lists the several most common websites used in this interpretation.

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.

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

Download or read book Holland Frei Cancer Medicine written by Robert C. Bast, Jr. and published by John Wiley & Sons. This book was released on 2017-03-10 with total page 2004 pages. Available in PDF, EPUB and Kindle. Book excerpt: Holland-Frei Cancer Medicine, Ninth Edition, offers a balanced view of the most current knowledge of cancer science and clinical oncology practice. This all-new edition is the consummate reference source for medical oncologists, radiation oncologists, internists, surgical oncologists, and others who treat cancer patients. A translational perspective throughout, integrating cancer biology with cancer management providing an in depth understanding of the disease An emphasis on multidisciplinary, research-driven patient care to improve outcomes and optimal use of all appropriate therapies Cutting-edge coverage of personalized cancer care, including molecular diagnostics and therapeutics Concise, readable, clinically relevant text with algorithms, guidelines and insight into the use of both conventional and novel drugs Includes free access to the Wiley Digital Edition providing search across the book, the full reference list with web links, illustrations and photographs, and post-publication updates

Download or read book Genetics of Male Infertility written by Mohamed Arafa and published by Springer Nature. This book was released on 2020-03-14 with total page 374 pages. Available in PDF, EPUB and Kindle. Book excerpt: This unique, case-based guide provides a thoughtful and comprehensive overview of the genetic basis of male infertility for the practicing clinician. In addition to discussing the molecular foundations of sperm production and the consequences of genetic abnormalities on various stages of sperm development, it examines the clinical aspects of acknowledged genetic disorders and their implications on male fertility. In so doing, it offers the necessary tools required by the clinician for the diagnosis and treatment of infertile men with genetic abnormalities. Moreover, it provides essential algorithms that may aid in counseling patients in the clinic. The text is arranged in four thematic sections for easy reference. The genetic foundation of male reproduction is presented in part 1, including regulation of sperm production, the structure of sperm chromatin, and spermatogenesis. The impact of genetic abnormalities on male infertility is the subject of part 2, covering sperm defects, mitochondrial function and DNA fragmentation. The clinical case material in part 3 illustrates real-world examples of genetic etiologies and the current diagnostic and therapeutic strategies for conditions such as vas asplasia, cryptorchidism, immotile cilia syndrome, sperm aneuploidy and other challenging scenarios. Casting forward, the fourth and final section presents an overview of future possibilities for management of genetic causes of male infertility, including gene editing. Fully exploring the clinical context of these genetic conditions in a practical manner that appeals to the practicing clinician, Genetics of Male Infertility is an exciting and essential text for reproductive medicine specialists, andrologists, urologists, researchers and all other clinicians treating infertile patients.

Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Download or read book Genetics of the Evolutionary Process written by Theodosius Dobzhansky and published by Columbia University Press. This book was released on 1970 with total page 524 pages. Available in PDF, EPUB and Kindle. Book excerpt: The world's foremost geneticist surveys the major developments in what is emerging as the most important single area of scientific inquiry in the twentieth century: biological theory of evolution.

Download or read book Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Download or read book ABNORMAL KARYOTYPES written by Sana Nimer Abu Shihab and published by Author House. This book was released on 2013-10 with total page 253 pages. Available in PDF, EPUB and Kindle. Book excerpt: In my first book (Your Easy Way To Chromosomes), the main topic was about the human chromosomes, their structures, abnormalities, syndromes, and chromosome analysis. In this book I focused on abnormal karyotypes and how chromosomal abnormalities happen. A karyotype is a picture of a person's chromosomes from body cells (blood, hair, or any other tissue), photographing them through a microscope and arranging them in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotype test (alternative names are Chromosome Analysis, Chromosomal Analysis) plays a role in: diagnosis genetic diseases which are related to chromosomal abnormalities, diagnosis some birth defects, and provides clinical utility in the diagnosis and treatment of hematologic malignancies. On the other hand some genetic abnormalities cannot be detected by karyotype analysis such as microdeletions. Karyotype helps clinical cytogeneticist to identify abnormalities by: Counting the number of chromosomes and looking for extra chromosome such as in trisomy 21 or missing chromosome in a karyotype such as in Turner syndrome. Looking for changes in chromosome structure such as chromosomal deletions, duplications, translocations, insertions, inversions and other chromosomal abnormalities. Writing a book related to your field shows your passion and commitment to your job. Sana Nimer [email protected] [email protected]

Download or read book The Genome of Drosophila Melanogaster written by Dan L. Lindsley and published by Academic Press. This book was released on 2012-12-02 with total page 1144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dedicated to the memory of George Lefevre in recognition of his exhaustive cytogenetic analysis of the X chromosome, The Genome of Drosophila melanogaster is the complete compendium of what is known about the genes and chromosomes of this widely used model organism. The volume is an up-to-date revision of Lindsley and Grell's 1968 work, Genetic Variations of Drosophila melanogaster. The new edition contains complete descriptions of normal and mutant genes including phenotypic, cytological, molecular, and bibliographic information. In addition, it describes thousands of recorded chromosome rearrangements used in research on Drosophila. This handbook and its accompanying polytene chromosome maps, are sturdily bound into the book as foldouts and available as a separate set, are essential research tools for the Drosophila community. - Describes phenotype, cytology, and molecular biology of all recorded genes of Drosophila melanogaster, plus references to the literature - Describes normal chromosome complement, special chromosome constructs, transposable elements, departures from diploidy, satellite sequences, and nonchromosomal inheritance - Describes all recorded chromosome rearrangements of Drosophila melanogaster as of the end of 1989 Contains the cytogenetic map of all genes as of mid-1991 - Contains the original polytene maps of C.B. Bridges, plus G. Lefevre's photographic equivalents, and the detailed maps of the chromosome arms produced by C.B. and P.M. Bridges - All maps are reprinted as high-quality foldouts sturdily bound into the volume - Maps may also be purchased separately in an eight-map packet, for laboratory and student use

Download or read book Perinatal Genetics written by Mary E Norton and published by Elsevier Health Sciences. This book was released on 2019-01-23 with total page 207 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. - Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. - Contains a chapter on fetal treatment of genetic disorders. - Consolidates today's available information and experience in this important area into one convenient resource.