Author: Digamber S. Borgaonkar
Publisher: John Wiley & Sons
ISBN: 9780471833369
Category : Science
Languages : en
Pages : 0

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Author: Digamber S. Borgaonkar
Publisher:
ISBN:
Category : Chromosome abnormalities
Languages : en
Pages : 466

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Book Description
Over 1500 entries to literature (mostly English-language journal articles). Sources were Current contents, various genetics journals, Excerpta medica, and Index medicus. Entries arranged under sections titled Structural variations and anomalies, Numerical anomalies, and Chromosome breakage syndromes. Author, selected syndrome index.

Author: Digamber S. Borgoankar
Publisher: Wiley-Liss
ISBN: 9780471509189
Category : Science
Languages : en
Pages : 852

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Book Description
Offers ready access to the wide array of existing literature on human chromosomal variations and abnormalities. Newly revised, this extensive collection of bibliographic data shows readers if any kind of abnormality--rare or common--has been described, and if so, by whom, when, and where. Tabular and pictorial data has been assembled, arranged, and coded for easy retrieval. The first section reports on structural abnormalities of human chromosomes, including deletions, inversions, and translocations, categorized according to chromosome break points and listed alphabetically by author. A bibliographic citation then appears, followed by the chromosome constitutions of the cases reported. The second section reports on numerical abnormalities, including trisomies, monosomies, and polyploids. Also provides extensive, newly collated data on chromosomal studies in inherited genetic conditions.

Author: H.N. Seuanez
Publisher: Springer Science & Business Media
ISBN: 3642672604
Category : Medical
Languages : en
Pages : 198

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Book Description
The question of how man has emerged must be as old as human thought itself. However, it was not until last century that, amidst a storm of opposition and highly emotional criticism, man was first conceived as a product of evolution rather than creation. Moreover, it is not yet thirty years since the chemical composition and molecular structure of the hereditary material was fully understood or the chromosome number of man became known. It should not be surprising then, to find how little, at present, we understand how our genes and chromosomes operate, and how they have evolved during phylogeny. In this work I have discussed how our own chromosomes have been transmitted and altered as far back as we may trace their phylogeny into the past. To make the work more complete, the composition and evolution of our own genome had also to be consiered in order to understand some of the recent findings at the chromosome level. These have resulted from using methods for localizing repetitive and single copy DNA sequences in chromosomes. Moreover, the development of biochemical methods of studying evolution at the macromolecular level has not only led to a more complete understanding of the evolutionary mechanisms, but has enabled us to make comparisons with evolutionary change at the chromosome level. In addition, a simple reference to the fossil record was necessary, because impressive discoveries in recent years have supplied valuable data on man's evolution.

Author: Borgaonkar
Publisher:
ISBN: 9780471563600
Category :
Languages : en
Pages :

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Author: Derek Frank Roberts
Publisher: Cambridge University Press
ISBN: 9780521332576
Category : Science
Languages : en
Pages : 318

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Book Description
This volume considers the genetic variability of human populations, particularly in the tropics: its origins and maintenance, and its contribution to the phenotypic variability of complex characters. The first section deals with the ways of analysing genetic variation and provides a valuable review of relevant developments in molecular biology. The origin and maintenance of genetic diversity is considered in the second section with data presented for Pacific, African, Asian and Central American populations. The final section concerns characters in which the genetic contribution to variability is complex and shows how such characters may be used to elucidate biological problems of affinity and differentiation, of adaptation and survival. Published as part of the Decade of the Tropics research programme of the International Union of Biological Sciences, this volume will be of particular interest to human geneticists, physical and biological anthropologists.

Author: R.J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 019932901X
Category : Medical
Languages : en
Pages : 634

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Book Description
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.

Author: Digamber S. Borgaonkar
Publisher: Wiley-Liss
ISBN: 9780471443643
Category :
Languages : en
Pages :

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Author: P.H. Vogt
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318060984
Category : Medical
Languages : en
Pages : 178

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Book Description
Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.

Author: Raj S. Bhopal
Publisher: Oxford University Press
ISBN: 0198739680
Category : Medical
Languages : en
Pages : 481

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Book Description
First edition published in 2002. Second edition published in 2008.