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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.
This volume is based on a symposium, "Cognitive and Psychosocial Dysfunctions Associated with Sex Chromosome Abnormalities," presented at the 1986 Annual Meeting of the American Association for the Advancement of Science. It contains reports from individual research groups and a psychological study.
Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.
About 1400 references to books and journal articles "primarily concerned with social and psychological issues of applied human genetics in general, and genetic counseling in particular". Excludes literature dealing with ethical or proscriptive areas. Also covers foreign-language titles. Citations mostly from 1960's through 1972. Classified arrangement. No index.
An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. Thus, rather than being a conventional history, this book transmits the essence of the ideas and the people involved and how they interacted in advancing- and sometimes retarding- the field. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics.
This laboratory manual covers the study of chromosomes in plants, animal and human systems, dealing with the protocols and principles involved. It caters to the requirements of scientists working laboratories, presenting details of the operational mechanism for use at the chromosome level.
Explore the recent methodological advances in dermatoglyphics, particularly-genetics, developmental variations, ethnic variability, inheritance, forensic and clinical aspects of dermatoglyphics. This volume is an aid to assist those who are engaged in application of dermatoglyphics, especially in the field of human biology, anthropology, forensic science and medicine.
For 150 years, Down's Syndrome has constituted the archetypal mental disability, easily recognisable by distinct facial anomalies and physical stigmata. In a narrow medical sense, Down's syndrome is a common disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British asylum medical superintendent who described the syndrome as Mongolism in a series of lectures in 1866. In 1959, the disorder was identified as a chromosome 21 trisomy by the French paediatrician and geneticist Jérôme Lejeune and has since been known as Down's Syndrome (in the English-speaking world) or Trisomy 21 (in many European countries). But children and adults born with this chromosomal abnormality have an important collective history beyond their evident importance to the history of medical science. David Wright, a Professor in the History of Medicine at McMaster University, looks at the care and treatment of Down's sufferers - described for much of history as 'idiots', - from Medieval Europe to the present day. The discovery of the genetic basis of the condition and the profound changes in attitudes, care, and early identification of Down's in the genetic era, reflects the fascinating medical and social history of the disorder.
Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
Modern Trends in Physiological Sciences, Volume 36: Thyroiditis and Thyroid Function: Clinical, Morphological, and Physiopathological Studies presents a detailed understanding of the incipient stages of hypothyroidism that have important clinical connections with atherosclerosis and obesity. This book provides an overall view of iodine metabolism and pituitary thyroid relationships. Organized into 15 chapters, this volume begins with an overview of the role of the thyroid in converting inorganic iodine into thyroid hormones. This text then discusses the concept of autoimmunity, with emphasis on the immunizing mechanisms to combat the foreign agents invading the body. Other chapters consider the possible relationship with autoimmune processes of the struma fibrosa giant-cell variant. This book discusses as well several case studies concerning chronic lymphocytic thyroiditis, Hashimoto's disease, and autoimmune thyroiditis. The final chapter deals with the pathogenic importance of each type of autoimmune thyroiditis. This book is a valuable resource for thyroid specialists, endocrinologist, and physicians.