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Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
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.
Human Afflictions and Chromosomal Aberrations
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.
Human Chromosomes
The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
Chromosome Abnormalities and Genetic Counseling
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.
Human Chromosome Atlas
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.
Textbook of Human Reproductive Genetics
This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.
The Causes and Consequences of Chromosomal Aberrations
The Causes and Consequences of Chromosomal Aberrations explores one of the most dramatic examples of genomic instability-chromosomal aberrations. It describes some of the more recent techniques used to map genes within the human genome, study chromosomal aberrations at the cellular level, and define the organization of the interphase nucleus. General overviews are provided to build a conceptual framework for understanding the generality and specificity of chromosomal aberrations. The Causes and Consequences of Chromosomal Aberrations also explores the role of recombinases and topoisomerases in the development of chromosomal aberrations. It contains studies of chromosomal aberrations, which offer separate instructive treatises on specific malignancies. The Causes and Consequences of Chromosomal Aberrations is useful to medical and graduate students, physicians, molecular biologists, and cytogeneticists. It will benefit anyone interested in the concepts, contributions, and development in the field of molecular cytogenetics.
Screening for Down's Syndrome
This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
Chromosomal Abnormalities
This edited book, Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability, contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. We are extremely grateful to the authors who had contributed with valuable information about the role of genomic instability in pathological disorders as well as in the evolution process.
Catalogue of Unbalanced Chromosome Aberrations in Man
No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".
