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R. J. M. Gardner
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Chromosome Abnormalities and Genetic Counseling: No.29 Hardcover – 1 July 1996

by R. J. M. Gardner (Author), Grant R. Sutherland (Contributor)
5.0 out of 5 stars 2
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Chromosome Abnormalities and Genetic Counseling
Chromosome Abnormalities and Genetic Counseling
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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.
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  1. Part of series
    Oxford Monographs on Medical Genetics
  2. Print length
    494 pages
  3. Language
    English
  4. Publisher
    Oxford University Press Inc
  5. Publication date
    1 July 1996
  6. Dimensions
    23.62 x 3.3 x 16 cm
  7. ISBN-10
    0195106156
  8. ISBN-13
    978-0195106152
  9. See all details
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Product details

  • Publisher ‏ : ‎ Oxford University Press Inc; 2 edition (1 July 1996)
  • Language ‏ : ‎ English
  • Hardcover ‏ : ‎ 494 pages
  • ISBN-10 ‏ : ‎ 0195106156
  • ISBN-13 ‏ : ‎ 978-0195106152
  • Dimensions ‏ : ‎ 23.62 x 3.3 x 16 cm
  • Customer Reviews:
    5.0 out of 5 stars 2

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R. J. M. Gardner

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5.0 out of 5 stars とても良い。
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染色体異常の基本を学ぶには十分な内容。
外来で患者さんに説明する前に必ず開いてます。
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