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Chromosome Abnormalities and Genetic Counseling
Third Edition
R. J. McKinlay Gardner and Grant R. Sutherland
596 pages
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4pp colour plates, numerous black and white photographs and line figures
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254x170mm
978-0-19-514960-9
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Hardback
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16 October 2003
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Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counselling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counsellors, medical geneticists, paediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists.
This third edition has been
thoroughly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and recent advances in molecular cytogenetics are noted. The book will give counsellors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action. Readership: Students of cytogenetics and genetic counselling
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R. J. McKinlay Gardner, Medical Geneticist, Genetic Health Services, Victoria and Murdoch Childrens Research Institute, Melbourne, Australia, and Grant R. Sutherland, Former Director, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia
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"From reviews of the previous edition:"
"As one who has watched human cytogenetics from its birth in 1956 to its present extraordinary capabilities and who counsels families with chromosomal problems without ever having learned how to prepare a karyotype, I found this book a godsend... The writing is rigorous and often elegant. Gardner and Sutherland have the necessary knowledge to and provide useful assessments of the available information." - New England Journal of Medicine
"Chromosome Abnormalities and Genetic Counseling is a comprehensive text encompassing a full complement of cytogenetic information. Concepts are introduced such as basic cytogenetic elements, ethical and counselling issues and the handling of risk figures. A brief and concise review of chromosome pathology is included, enough to refresh the memory without insulting the reader's intelligence... This book is a wonderful asset to any library and can serve either as an educational text or as a reference." - Applied Cytogentics
"This book has been written primarily for two groups of readers: the genetic counsellor (both medical and nonmedical) and the cytogenetic laboratory scientist. There are substantial sections of the book, however, which are of relevance to paediatricians... The authors are to be congratulated, not only because their book is one of the best of its kind, written in a clear and balanced manner and practically oriented, but also because of their antipodean origins!" - Journal of Paediatrics and Child Health
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Part I: Basic concepts
1: Elements of medical cytogenetics
2: The origins and consequences of chromosome pathology
3: Deriving and using a risk figure
Part II: Parent with a chromosomal abnormality
4: Autosomal reciprocal translocations
5: Sex chromosome translocations
6: Robertsonian translocations
7: Centromere fissions, complementary isochromosomes, and telomeric fusions
8: Inversions
9: Insertions
10: Autosomal ring chromosomes
11: Complex rearrangements
12: Parental sex chromosome aneuploidy
13: Parental autosomal aneuploidy
14: The fragile X syndromes
15: Variant chromosomes and abnormalities of no phenotypic consequence
Part III: Normal parents with a chromosomally abnormal child
16: Down syndrome, other full aneuploidies, and polyploidy
17: Structural rearrangements
18: The XY female, the XX male, and the true hemaphrodite
19: Chromosome instability syndromes
Part IV: Disorders associated with aberrant genomic imprinting
20: Uniparental disomy and disorders of imprinting
Part V: Reproductive Failure
21: Gametogenesis and conception, pregnancy loss and infertility
Part VI: Prenatal Diagnosis
22: Parental age counseling and screening for fetal trisomy
23: Prenatal diagnostic procedures
24: Preimplantation genetic diagnosis
25: Chromosome abnormalities detected at prenatal diagnosis
Part VII: Noxious Agents
26: Gonadal chromosomal damage from exposure to extrinsic agents
Appendices
A: Ideograms of human chromosomes and haploid autosomal lengths
B: Cytogenetic abbreviations and nomenclature
C: Determining 95 percent confidence limits, and the standard error
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The specification in this catalogue, including without limitation price, format, extent, number of illustrations, and month of publication, was as accurate as possible at the time the catalogue was compiled. Occasionally, due to the nature of some contractual restrictions, we are unable to ship a specific product to a particular territory. Jacket images are provisional and liable to change before publication.
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