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Author: Claudia Behrend Publisher: Springer ISBN: 3319540998 Category : Medical Languages : en Pages : 210
Book Description
This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
Author: Claudia Behrend Publisher: Springer ISBN: 3319540998 Category : Medical Languages : en Pages : 210
Book Description
This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
Author: H.E. Wyandt Publisher: Springer Science & Business Media ISBN: 9401704333 Category : Medical Languages : en Pages : 314
Book Description
Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).
Author: Stephen J. O'Brien Publisher: John Wiley & Sons ISBN: 1119418046 Category : Science Languages : en Pages : 1008
Book Description
THE UPDATED NEW EDITION OF THE POPULAR COLLECTION OF HIGH-RESOLUTION CHROMOSOME PHOTOGRAPHS—FOR GENETICISTS, MAMMOLOGISTS, AND BIOLOGISTS INTERESTED IN COMPARATIVE GENOMICS, SYSTEMATICS, AND CHROMOSOME STRUCTURE Filled with a visually exquisite collection of the banded metaphase chromosome karyotypes from some 1,000 species of mammals, the Atlas of Mammalian Chromosomes offers an unabridged compendium of the state of this genomic art form. The Atlas??contains the best karyotype produced, the common and Latin name of the species, the published citation, and identifies the contributing authors. Nearly all karyotypes are G-banded, revealing the chromosomal bar codes of homologous segments among related species. The Atlas brings together information from a range of cytogenetic literature and features high-quality karyotype images for nearly every mammal studied to date. When the Atlas was first published, only three mammals were sequenced. Today, that number is over 300. Now in its second edition, this book contains extensive revisions and major additions such as new karyotypes that employ G- and C- banding to represent euchromatin and heterochromatin genome composition, new phylogenetic trees for each order, homology segment chromosome information on published aligned chromosome painting. Summaries of the painting data for some species indicate conserved homology segments among compared species. An invaluable resource for today's comparative genomics era, this comprehensive collection of high-resolution chromosome photographs: Assembles information previously scattered throughout the cytogenetics literature in one comprehensive volume Provides chromosome information and illustrations for the karyotypes of 300 new species Addresses the mandate of the Human Genome Project to annotate the genomes of other organisms Serves as a basis for chromosome-level genome assemblies Offers a detailed summation of three decades of ZooFish (chromosome painting) Presents high-resolution photos of karyotypes that represent more than 1,000 mammal species Written for geneticists, mammalogists, and biologists, the Atlas of Mammalian Chromosomes offers a step forward for an understanding of species formation, of genome organization, and of DNA script for natural selection.
Author: Stephen J. O'Brien Publisher: John Wiley & Sons ISBN: 0471779040 Category : Science Languages : en Pages : 544
Book Description
A stunning visual collection of the banded metaphase chromosomekaryotypes from some 850 species of mammals, the Atlas of MammalianChromosomes represents an unabridged compendium of the state ofthis genomic art form. Bringing together information currentlyscattered throughout the cytogenetics literature for scores ofpublished and unpublished species, this atlas features high-qualitykaryotype images for nearly every mammal studied to date, making itthe most comprehensive assemblage of high-resolution chromosomephotographs available--a critically invaluable resource for today'scomparative genomics era. For every available species, the Atlas of Mammalian Chromosomespresents the best karyotype produced, the common and Latin name ofthe species, the published citation, and the contributing authors.Most karyotypes are G-banded, revealing the chromosomal bar codesof homologous segments among related species. Addressing the mandate of the Human Genome Project to annotate thegenomes of other organisms as well, the Atlas of MammalianChromosomes offers a step forward in our understanding of speciesformation, of genome organization, and of DNA script for naturalselection. It is an invaluable resource for geneticists,mammalogists, and biologists interested in comparative genomics,systematics, and chromosome structure.
Author: Sylwester Chyb Publisher: Academic Press ISBN: 0123846897 Category : Science Languages : en Pages : 243
Book Description
The Atlas of Drosophila Morphology: Wild-type and Classical Mutants is the guide every Drosophila researcher wished they had when first learning genetic markers, and the tool they wish they had now as a handy reference in their lab research. Previously, scientists had only poor-quality images or sketches to work with, and then scattered resources online - but no single visual resource quickly at their fingertips when explaining markers to new members of the lab, or selecting flies to do their genetic crosses, or hybrids. This alphabetized guide to Drosophila genetic markers lays flat in the lab for easy referencing. It contains high-resolution images of flies and the appropriate marker on the left side of each page and helpful information for the marker on the facing page, such as symbol, gene name, synonyms, chromosome location, brief informative description of the morphology, and comments on marker reliability. A companion website with updated information, useful links, and additional data provided by the authors complements this extremely valuable resource. - Provides an opening chapter with a well-illustrated introduction to Drosophila morphology - Features high-resolution illustrations, including those of the most common markers used by Drosophila researchers - Contains brief, practical descriptions and tips for deciphering the phenotype - Includes material relevant for beginners and the most experienced fly pushers
Author: Roger E. Stevenson Publisher: Oxford University Press ISBN: 0199811792 Category : Medical Languages : en Pages : 363
Book Description
The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Author: Herman E. Wyandt Publisher: Springer ISBN: 9811030359 Category : Medical Languages : en Pages : 500
Book Description
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.
Author: Kurt Benirschke Publisher: Springer Science & Business Media ISBN: 3642657516 Category : Medical Languages : en Pages : 233
Book Description
Since the publication of the first Atlas of Mammalian Chromosomes in 1967 the continuous compilation of mammalian karyotypes has become a useful instrument in cytologic and taxonomic studies. Technical advances in preparing mitotic cells from nonmammalian vertebrates have since allowed a better comparison of taxa in fishes, amphibia, reptiles, and birds. In these fields the literature is also widely scat tered; and it has become difficult to survey such information, published as well as unpublished, by nonspecialists. These were among the reasons for the new endeavor of compiling a chromosome atlas for nonmammalian vertebrates. An annual publication is planned with presentation of between 10 and 15 karyotypes from each class. In this second volume, 52 species are presented. For convenience in future colation, the numbering system employs class abbreviations, viz. , P-Pisces, Am-Amphibia, R-Reptilia, and Av-Aves. Within each class, the numbers are necessarily consecutive. In general the karyotypes are laid out following the format employed in An Atlas of Mammalian Chromosomes. Whenever possible both sexes are represented, even though sexual chromosomal dimorphism is not (currently) evident. When the sex chromosomes are known, they are so indicated by conventional nomenclature (XX/XY or ZW /ZZ). In the karyotypes of birds the so-called microchromosomes are grouped together at the end without an attempt at complete enumeration, which is presently impossible. They are usually considered as acrocentrics, but a few are distinctly biarmed.
Author: Keith L. Moore Publisher: Saunders ISBN: Category : Medical Languages : en Pages : 312
Book Description
Outlining the most important concepts of clinical embryology, the second edition of this full color atlas gives a well-illustrated overview of human development before birth. Each chapter has been thoroughly revised with the most up-to-date information. Accompanied by authoritative descriptions, this superb resource provides a step-by-step review of normal and abnormal embryonic and fetal development through hundreds of color photographs, 3-dimensional drawings, electron micrographs, sonograms, MR images, and pen-and-ink sketches. It also includes photographs and tables indicating periods when tissue and organ formations may be affected by teratogenic agents.
Author: Claudia Behrend
Author: Claudia Behrend
Author: H.E. Wyandt
Author: Stephen J. O'Brien
Author: Stephen J. O'Brien
Author: Sylwester Chyb
Author: Roger E. Stevenson
Author: Herman E. Wyandt
Author: Kurt Benirschke
Author: Tao-Chiuh Hsu
Author: Keith L. Moore