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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.
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.
This biographical reference work looks specifically at the lives, works and careers of those individuals involved in civil engineering whose careers began before 1830.
Based on the RCOG Training Module in Fetal Medicine, this book provides a knowledge base for practitioners in obstetrics and maternal-fetal medicine.
Man’s control over the elements of land and water for the purposes of agriculture was fundamental to the development of civilisations in the past, and remains so today. This volume deals with the processes of irrigation, and land drainage and reclamation, and illustrates the variety of technological and engineering solutions in a wide chronological and geographical perspective. The sophistication of many pre-modern systems is clear, as is the impact of modern technologies. Important points that emerge are that there was no steady or linear progression in techniques across time - instances of the transfer of ideas are balanced by cases of independent development - and that the correlations between irrigation systems and social structures demand more complex explanations than often proposed.
This volume traces the process by which reinforced concrete emerged during the 19th century as the successful building material of today. Early work on testing the strength of cements led into a period of experimental work by a number of engineers, notably in Britain, France and America, to devise successful systems of embedding iron in concrete in such a way that the two materials would act together to carry imposed loads. The papers take the story to the early years of the 20th century and provide a thorough review of the gradual evolution of ideas and the contributions of individuals to this technology.
The importance of design has often been neglected in studies considering the history of structural and civil engineering. Yet design is a key aspect of all building and engineering work. This volume brings together a range of articles which focus on the role of design in engineering. It opens by considering the principles of design, then deals with the application of these to particular subjects including bridges, canals, dams and buildings (from Gothic cathedrals to Victorian mills) constructed using masonry, timber, cast and wrought iron.
Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic seque...
Historic concrete deals predominantly with concrete in Britain, but makes reference to discoveries and works in other countries where these have influenced practice in Britain. It examines the history of reinforced and prestressed concrete and also includes chapters covering military applications of concrete and its use in tunnels, roads and pavements, water-retaining structures and dams.
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 m...