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Author: Claudia Behrend
Publisher: Springer
ISBN: 3319540998
Category : Medical
Languages : en
Pages : 210
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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
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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: Stephen J. O'Brien
Publisher: John Wiley & Sons
ISBN: 1119418038
Category : Science
Languages : en
Pages : 1008
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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: H.E. Wyandt
Publisher: Springer Science & Business Media
ISBN: 9401704333
Category : Medical
Languages : en
Pages : 314
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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: Claudia Behrend
Publisher: Springer Nature
ISBN: 3031105885
Category : Medical
Languages : en
Pages : 385
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Book Description
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.
Author: Stephen J. O'Brien
Publisher: John Wiley & Sons
ISBN: 0471779040
Category : Science
Languages : en
Pages : 544
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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: Jean de Grouchy
Publisher: John Wiley & Sons
ISBN:
Category : Medical
Languages : en
Pages : 520
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Book Description
Author: Tao C. Hsu
Publisher: Springer Science & Business Media
ISBN: 1461564220
Category : Science
Languages : en
Pages : 118
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Book Description
In recent years, because of advances in karyological techniques, we have witnessed a remarkable renewal of interest in studies of mammalian chromosomes. These techniques, generally involving the use of tissue culture, colchicine and hypotonic solution pretreatments, allow for a much clearer display of metaphase chromosomes of mammalian cells than the classic direct squash or tissue section methods. Consequently, what was known about the chromosome complement of most mammals must be revised. The most astonishing revision, of course, was that made by Tjio and Levan in 1956, who demonstrated that the diploid number of man is 46, not 48 as previously believed. Similar revisions will have to be made for many other mammalian species, either in number or in karyotype structure. Many animals are being examined cytologically for the first time. The findings are now extensive and scattered; they appear in numer ous periodicals and newsletters, or they are kept in cytologists' file drawers without being published. It is difficult to have access to perti nent data for comparison among related species or for evaluation of various karyological characteristics within a karyotype. Such evaluations can be done only when reasonably uniform material is collected and placed side by side for comparison, accompanied by relative references. We considered that probably an Atlas of Mammalian Chromosomes would fulfill such a need. Needless to say, it is impossible to present karyotypes of all mam malian species at one time.
Author: Tao C. Hsu
Publisher: Springer Science & Business Media
ISBN: 1461298261
Category : Medical
Languages : en
Pages : 244
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Book Description
Author: Sylwester Chyb
Publisher: Academic Press
ISBN: 0123846897
Category : Science
Languages : en
Pages : 243
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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: Herman E. Wyandt
Publisher: Springer
ISBN: 9811030359
Category : Medical
Languages : en
Pages : 490
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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.
