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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.
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.
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
This book explores what mapping meant in the psat and how its meanings have altered. The authors investigate mappings of terrestrial space on a large scale; mapping and localism; personal mappings on and of the human body; cosmographic or imaginary mappings beyond the scale of direct earthly experience.
The constantly growing demand for energy, as well as the realization during the past decade that fossil energy reserves to satisfy ever increasing energy consumption are limited, have helped, as part of the search for alternative energy sources, to bring the subject of geothermics to its present level of significance. Practical geothermics is concerned with prospecting for and develop ment of geothermal heat. General geothermics deals with the thermal state of our Earth as a whole. Both divisions of this field, however, contribute practical insights, and improved methods of temperature esti mation have helped to give us a better picture of detailed thermal condi tions. It is difficult for re...
Polymer-clay nanocomposites are formed through the union of two very different materials with organic and mineral pedigrees. The hybrid compositions, however, exhibit large increases in tensile strength, modulus, and heat distortion temperature as compared with the pristine polymer. The composites also have lower water sensitivity, reduced permeability to gases, and a similar thermal coefficient of expansion. All of these property improvements can be realized without a loss of clarity in the polymer. Further, it has been found that nanocomposites impart a level of flame retardance and UV resistance not present in the pure polymer. These improvements in performance properties at relatively lo...
Control of polymeric structure is among the most important endeavours of modern macromolecular science. In particular, tailoring the positioning and strength of intermolecular forces within macromolecules by synthetic methods and thus gaining structural control over the final polymeric materials has become feasible, resulting in the field of supramolecular polymer science. Besides other intermolecular forces, hydrogen bonds are unique intermolecular forces enabling the tuning of material properties via self-assembly processes over a wide range of interactions strength ranging from several kJmol to several tens of kJmol . Central for the formation of these structures are precursor molecules of small molecular weight (usually lower than 10 000), which can assemble in solid or solution to aggregates of defined geometry.
Clay Nanoparticles: Properties and Applications sets out the major properties of clay nanoparticles and their technological applications. The first part of the book focuses on the characterization of nanoclays, including layered, fibrous and tubular clay minerals. The second part illustrates the current and potential applications of nanoclays within material science and biotechnology. These include the development of geopolymers and bionanocomposites based on sustainable polymers filled with ecocompatible nanoclay. The potential use of nanoclays as flame retardants is also discussed, along with the correlation between the properties and potential applications of several nanoclay types. In particular, the applications explored include nanoclays as drug delivery systems and for environmental protection. The book provides a complete and multidisciplinary exploration of nanoclays, highlighting a range of perspectives within current nanotechnology research.
Bilinguals often report that they feel like a different person in their two languages. In the words of one bilingual in Koven's book, When I speak Portuguese, automatically, I'm in a different world it's a different color. Although testimonials like this abound in everyday conversation among bilinguals, there has been scant systematic investigation of this intriguing phenomenon. Focusing on French-Portuguese bilinguals, the adult children of Portuguese migrants in France, this book provides an empirically grounded, theoretical account of how the same speakers enact, experience, and are perceived by others to have different identities in their two languages. This book explores bilinguals'...