Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by . This book was released on 1977 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over 1500 entries to literature (mostly English-language journal articles). Sources were Current contents, various genetics journals, Excerpta medica, and Index medicus. Entries arranged under sections titled Structural variations and anomalies, Numerical anomalies, and Chromosome breakage syndromes. Author, selected syndrome index.
Download or read book Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukary otes. Because my own background includes plant and animal cytogenet ics, many of the examples are taken from organisms other than the human. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phenomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. " The above paragraph from the Preface of the first edition of this book also fits the present edition. However, so much has happened in five years in cytogenetics that-apart from a couple of pages here and there-the whole book has been rewritten and nine new chapters have been added. The system used in the first edition to cite, whenever possible, the latest and/or the most comprehensive review rather than the original publica tions has been followed here also. Not only would complete literature citations increase the size of the book too much, but many readers have expressed satisfaction with the referencing method used here.
Download or read book Chromosome Anomalies and Prenatal Development written by Dorothy Warburton and published by . This book was released on 1991 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas is intended for those interested in abnormal prenatal development in human beings and other mammals. This includes geneticists and developmental biologists, as well as those with a more applied interest, such as obstetricians, pediatricians, perinatologists, pediatric pathologists, toxicologist, and reproductive epidemiologists.
Download or read book Human Cytogenetics written by John L. Hamerton and published by Academic Press. This book was released on 2013-10-22 with total page 564 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Cytogenetics: Clinical Cytogenetics, Volume II presents the general theoretical principles and clinical aspects of cytogenetics, a branch of genetics that deals specifically with the study of the chromosomes. The volume focuses on the clinical cytogenetics of human. It discusses the sex chromosomes and their abnormalities and the abnormalities of sexual development and differentiation; mechanism of sex determination in mammals; major autosomal abnormalities found in human populations; and chromosome abnormalities in relation to human pregnancy wastage and chromosome changes in neoplasia. The book will be a great reference book for geneticists, cytogeneticists, pathologists, clinicians, and medical students.
Download or read book Chromosomal Variation in Man written by Digamber S. Borgoankar and published by Wiley-Liss. This book was released on 1989-02-07 with total page 852 pages. Available in PDF, EPUB and Kindle. Book excerpt: Offers ready access to the wide array of existing literature on human chromosomal variations and abnormalities. Newly revised, this extensive collection of bibliographic data shows readers if any kind of abnormality--rare or common--has been described, and if so, by whom, when, and where. Tabular and pictorial data has been assembled, arranged, and coded for easy retrieval. The first section reports on structural abnormalities of human chromosomes, including deletions, inversions, and translocations, categorized according to chromosome break points and listed alphabetically by author. A bibliographic citation then appears, followed by the chromosome constitutions of the cases reported. The second section reports on numerical abnormalities, including trisomies, monosomies, and polyploids. Also provides extensive, newly collated data on chromosomal studies in inherited genetic conditions.
Download or read book Human Afflictions and Chromosomal Aberrations written by Raymond Turpin and published by Elsevier. This book was released on 2013-10-22 with total page 405 pages. Available in PDF, EPUB and Kindle. Book excerpt: Modern Trends in Physiological Sciences, Volume 32: Human Afflictions and Chromosomal Aberrations presents the study of the links between chromosome aberrations and physical and mental congenital anomalies. This book discusses the possibilities of human cytogenetic research as well as its difficulties. Organized into 15 chapters, this volume begins with an overview of the development of human chromosome investigations. This text then explains the methods for studying human chromosomes, which can be applied without controlling the atmosphere of the incubator. Other chapters describe the structural features of the normal human karyotype. This book discusses as well the early appearance of a chromosome aberration that produces a change in the hereditary patrimony manifest in a constitutional disorder of the individual. The final chapter deals with the biochemical effects that correspond to numerical or structural anomalies in chromosome 21. This book is a valuable resource for genetecists, cytogeneticists, physicians, and clinical researchers.
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 Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, like the two previous editions, was written as an introduction to human cytogenetics, but it could also be used as a text for a general cytogenetics course, since chromosome structure and behavior are similar in all eukaryotes. Many examples in this book are from organisms other than humans, reflecting our combined backgrounds of molecular and bacterial genetics, and plant and animal cytogenetics. In the rapidly expanding field of human cytogenetics, certain subjects, for instance clinical and cancer cytogenetics, are now covered in recently published, thousand-page volumes. In this book, such subjects are presented only in outline. The enormous growth of information has also made the choice of topics and of examples to illustrate them even more arbitrary and subjective than in the previous editions. Apart from a few pages here and there, the text has been rewritten. Major parts, especially those on molecular matters, have been added. This book would not exist without the dedicated participation of Mrs. Barbara Susman. She has been involved in the project from the planning stages to the final proofreading. She has done the extensive literature research, designed most of the tables and illustrations, and edited and typed the text. For discussions and suggestions we are indebted to many colleagues. We wish especially to mention Drs. Lassi Alvesalo, Evelyn M. Kuhn, and Renata Laxova, who have critically read selected parts of the book, and Dr. Carter Denniston, who has read the whole text.
Download or read book Sex Chromosome Abnormalities And Human Behavior written by Daniel B Berch and published by CRC Press. This book was released on 2019-07-11 with total page 215 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is based on a symposium, "Cognitive and Psychosocial Dysfunctions Associated with Sex Chromosome Abnormalities," presented at the 1986 Annual Meeting of the American Association for the Advancement of Science. It contains reports from individual research groups and a psychological study.
Download or read book Human Chromosome Atlas written by Claudia Behrend and published by Springer Nature. This book was released on 2023-02-27 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.
Download or read book Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2003-08-28 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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 Chromosome anomalies and prenatal development an atlas written by D. ... Warburton and published by . This book was released on 1991 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 Ring Chromosomes written by Peining Li and published by Springer Nature. This book was released on with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Human Chromosome Variation Heteromorphism Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
Download or read book Human Oocytes and Their Chromosomes written by B.-M. Uebele-Kallhardt and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 113 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last decade has seen remarkable advances in human ge netics. Once the correct chromosome number of the human genome was ascertained, a wide variety of diseases was rec ognized as due to numerical chromosome anomalies. There followed the discovery that spontaneous abortions are the result of chromosome errors, and specific band patterns of chromosomes allowed identification of minute lesions. The techniques of cell hybridization now allow specific gene assign ment to chromosomes and even to distinct loci on their arms. All this was possible because of the ease with which metaphase chromosomes can be obtained and manipulated. The much older technique of analysis of meiotic chromosomes has taken a back seat in this exciting era. Being much less readily accessi ble, spermatogonial analysis is much less frequently under taken and is less successful. Even more difficult for study is the female meiotic process. Not only is meiosis extraordinar ily long, spanning from before birth to ovulation, the tech niques for its study and the patience required for detailed inquiry have been significant obstacles. At the same time, the suspicion that female meiotic analysis should not only be rewarding but that it may be mandatory has been with us ever since it was recognized that a positive correlation exists between chromosomal nondisjunction and maternal age. Before the intricacies of chromosomal behavior that are re sponsible for nondisjunction are understood, however, it is necessary that we comprehend the normalcy of the process.
