Abnormal Chromosomes
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| Author | : R.J. MKinlay Gardner |
| Publisher | : OUP USA |
| Total Pages | : 650 |
| Release | : 2012 |
| Genre | : Medical |
| ISBN | : 0195375335 |
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 | : R.J. McKinlay Gardner |
| Publisher | : Oxford University Press |
| Total Pages | : 729 |
| Release | : 2018-02-06 |
| Genre | : Medical |
| ISBN | : 019932901X |
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 | : Sana Nimer Abu Shihab |
| Publisher | : AuthorHouse |
| Total Pages | : 246 |
| Release | : 2013-11-13 |
| Genre | : Medical |
| ISBN | : 149180629X |
In my first book (Your Easy Way To Chromosomes), I talked mainly about the human chromosomes, their structures, abnormality, their syndromes, and chromosomes analysis. In this book I focused on how chromosomal abnormalities happened and showing some of abnormal karyotypes images for each chromosome . A karyotype is a picture of all the chromosomes from an individual’s cells (blood, hair, or any other tissue), photographing them through a microscope and arranging them in pairs, ordered by size and position of centromere. Karyotype test (alternative names Chromosomes Analysis) plays a role in diagnosis genetic diseases which related to chromosomal abnormalities, some birth defects, and even cancers such as certain hematologic and lymphoid disorders. On the other hand some genetic abnormalities cannot be detected by karyotype analysis such as microdeletions. Karyotype helps clinical cytogeneticist to identify abnormalities by: • Count the number of chromosomes and looking for extra such as trisomy 21 or missing chromosomes in a karyotype such as Turner syndrome. • Look for structural changes in chromosomes such as chromosomal deletions, duplications, translocations, or inversions. Writing a book related to your field shows your passion and commitment to your job Sana Nimer [email protected] [email protected]
| Author | : Rajendra K. Diwakar |
| Publisher | : Springer |
| Total Pages | : 161 |
| Release | : 2017-12-29 |
| Genre | : Medical |
| ISBN | : 9811048738 |
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.
| Author | : Susan Mahler Zneimer |
| Publisher | : John Wiley & Sons |
| Total Pages | : 672 |
| Release | : 2014-08-21 |
| Genre | : Science |
| ISBN | : 1118412567 |
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
| Author | : Tulay Askin Celik |
| Publisher | : BoD – Books on Demand |
| Total Pages | : 168 |
| Release | : 2020-11-11 |
| Genre | : Medical |
| ISBN | : 1789859794 |
Chromosomes are vital components of genetic material, and, as such, distruption or changes to the structure of chromosomes can result in different health problems and deficits. This book explains chromosomal abnomalities and their effects on living organisms, including humans and plants. Classical and molecular cytogenetics techniques have a considerable number of potential applications, especially in clinical trials and biomedical diagnosis, making them a strong and insightful complement to other molecular and genomic approaches. Chapters cover topics including Down syndrome, fetal ultrasounds, acute myeloid leukemia, and Phelan-McDermid syndrome, among others.
| Author | : Sverre Heim |
| Publisher | : John Wiley & Sons |
| Total Pages | : 211 |
| Release | : 2022-03-21 |
| Genre | : Medical |
| ISBN | : 1119651980 |
Explore the past, present, and future of cancer cytogenetics In Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics, globally renowned researchers Drs. Sverre Heim and Felix Mitelman deliver a state-of-the-art review of how cancer cytogenetic analyses have contributed to an improved understanding of tumorigenesis as well as to the diagnosis and treatment of cancer patients. The book also discusses how cytogenetics – the study of chromosomes - meets, interacts with, and cross-fertilizes other investigative technologies, including molecular somatic cell genetics. The book provides an impetus to think more deeply about the role chromosomes, and their abnormalities, play in health and disease, especially in neoplastic disorders. From which origins did cytogenetics develop? How did the finding of acquired chromosomal abnormalities in cells of leukemias and solid tumors influence our understanding of cancer as a biological process? How was information of this nature put to good use in the clinical management of cancer patients? Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics offers readers: A thorough introduction to ancient theories of disease, the advent of cellular pathology, and how a scientific interest in chromosomes developed Comprehensive exploration of the conceptual importance of Theodor Boveri and his somatic mutation theory of cancer A detailed chronological resume of cancer cytogenetic discoveries during the 20th century In-depth discussions of the role of chromosome abnormalities, oncogenes, and tumor suppressor genes in leukemias, lymphomas, and solid tumors, together with a survey of what chromosome analyses have revealed about the clonal evolution of neoplastic cell populations A discussion of the importance of pathogenetic classifications of neoplastic diseases, the role chromosome abnormalities play in this context, and which technological breakthroughs can be expected in chromosome-oriented cancer research Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics was written for everyone with a scientific or clinical interest in cancer, especially how acquired chromosome abnormalities lead to neoplastic transformation. The book teaches how cytogenetic analyses contribute to a better understanding of tumorigenesis, but also how the finding of specific chromosome aberrations can be crucial for the diagnosis, prognosis, and management of cancer patients.
| Author | : R. J. McKinlay Gardner |
| Publisher | : Oxford University Press |
| Total Pages | : 596 |
| Release | : 2003-08-28 |
| Genre | : Medical |
| ISBN | : 0199725241 |
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.
| Author | : R.J.M McKinlay Gardner |
| Publisher | : Oxford University Press |
| Total Pages | : 649 |
| Release | : 2011-11-11 |
| Genre | : Medical |
| ISBN | : 0199749159 |
Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.
| Author | : Alison Fiander |
| Publisher | : Cambridge University Press |
| Total Pages | : 557 |
| Release | : 2016-10-13 |
| Genre | : Education |
| ISBN | : 1107667135 |
A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
