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 ABNORMAL KARYOTYPES written by Sana Nimer Abu Shihab and published by AuthorHouse. This book was released on 2013-11-13 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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]
Download or read book Placental and Gestational Pathology with Online Resource written by Raymond W. Redline and published by Cambridge University Press. This book was released on 2018-08-23 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Download or read book Chromosomal Abnormalities written by Tulay Askin Celik and published by BoD – Books on Demand. This book was released on 2020-11-11 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Chromosome identification Medicine and Natural Sciences written by Torbjoern Caspersson and published by Elsevier. This book was released on 1973-01-01 with total page 357 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book International Registry of Abnormal Karyotypes written by Digamber S. Borgaonkar and published by . This book was released on 1975 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Repository of Chromosomal Variants and Anomalies written by Digamber S. Borgaonkar and published by . This book was released on 1987 with total page 778 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 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 Screening for Down s Syndrome written by J. G. Grudzinskas and published by Cambridge University Press. This book was released on 1994-11-17 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by . This book was released on 1980 with total page 760 pages. Available in PDF, EPUB and Kindle. Book excerpt: **** Cited in Chen. The expanded and updated seventh edition contains some 16,000 entries providing bibliographic data on both rare and common chromosome alterations and abnormalities. The compilation enables readers to conveniently overview what has been published on a specific type of chromosome abnormality. The first section reports on structural chromosomal variations and anomalies, such as deletions, inversions, and translocations. Numerical anomalies--including trisomies, monosomies, and polyploides--are listed in the second section. The final section provides comments on the various reports that are related to chromosomal breakage syndromes. Annotation copyright by Book News, Inc., Portland, OR
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 2018-02-06 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 Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2001 with total page 530 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 Pregnancy and Birth After Assisted Reproductive Technologies written by Michael Ludwig and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within 10 chapters this book addresses the whole gamut of questions that may arise in the context of pregnancy resulting from assisted reproduction. Incidence of abortion, extrauterine pregnancy or chromosomal abnormalities, pregnancy complications, problems regarding mode of delivery and the health status of children at birth are covered as well as the further development of the children and the social structure of the families. Topics such as follow-up of families in lesbian relationships and following gamete donations are also discussed.
Download or read book Repository of Chromosomal Variants and Anomalies in Man written by Digamber S. Borgaonkar and published by . This book was released on 1983 with total page 725 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Down Syndrome From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist