Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics)

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9780195106152: Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics)
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There have been many advances in clinical cytogenetics since the first edition of this book appeared in 1989. The authors have written more expansively on segregation and risks in reciprocal translocations, X-autosome translocations, inversions, insertions, and prenatal diagnosis. The deletion syndromes have become more numerous, and more precisely defined, and this required treatment. Fluorescence in situ hybridization has become a routinely applied methodology, and its use has extended the power, and increased the sophistication, of the discipline of clinical cytogenetics. The Human Genome Project is unravelling the complexity of our genetic inheritance, and readers will find evidence of its impact on the practicalities of human cytogenetics throughout the book. Two phrases not used at all in the first edition are dynamic mutation and genomic imprinting. The fragile X syndrome now has the status of the prototypical dynamic mutation. The authors completely rewrote this chapter, giving it a much more molecular character. The Prader-Willi and Angelman syndromes, likewise, have become the classic examples of genomic imprinting and uniparental disomy. Compared with the tentative comments on these syndromes in the first edition, they now receive more extensive treatment. Yet, while the subject has become more complicated, the book's aim remains the same; to furnish a straightforward scientific description that will help readers understand the various chromosome abnormalities encountered in clinical practice, and to provide practical advice that can be passed on to the people who have, or whose families have, these abnormalities.

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About the Author:

R. J. M. Gardner, Medical Geneticist, Murdoch Institute. G. R. Sutherland, Director of the Department of Cytogenetics and Molecular Genetics, Adelaide Women and Children's Hospital.

Review:

"An indespensible resource for clinical geneticists, genetic counselors, and students of medical genetics....This is a much needed resource....This book belongs in th personal library of every clinical geneticist and genetic counselor and on the reference shelves of all medical libraries. Four
stars!"--Doody's Health Sciences Book Review Journal

"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 and provide useful assessments of the available information."--New England Journal of Medicine

"An indispensible resource for clinical geneticists, genetic counselors, and students of medical genetics....This is a much needed resource....This book belongs in th personal library of every clinical geneticist and genetic counselor and on the reference shelves of all medical libraries. Four
stars!"--Doody's Health Sciences Book Review Journal

"A comprehensive text encompassing a full complement of cytogenetic information...A brief and concise review of chromosome pathology is included, enough to refresh the memory without insulting the reader's intelligence....The many diagrams and tables break up the content which is helpful to
allow assimilation of the information before proceeding to the next section....Wonderful asset to any library and can serve as either an educational text or as a reference."--Applied Cytogenetics

Noted in Journal of Paediatrics and Child Health

"An indispensable resource for clinical geneticists, genetic counselors, and students of medical genetics....This is a much needed resource....This book belongs in th personal library of every clinical geneticist and genetic counselor and on the reference shelves of all medical libraries. Four
stars!"--Doody's Health Sciences Book Review Journal

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9780195149609: Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics)

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9780195049329: Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics)

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