Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling

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Description

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.show more

Product details

  • Hardback | 596 pages
  • 182.88 x 256.54 x 45.72mm | 1,383.45g
  • Oxford University Press Inc
  • New York, United States
  • English
  • Revised
  • 3rd Revised edition
  • 4pp colour plates, numerous black and white photographs and line figures
  • 0195149602
  • 9780195149609
  • 705,962

Review quote

"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." "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 counseling 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." ..".this book has been written primarily for two groups of readers: the gentic counsellor (both medical and nonmedical) and the cytogenetic laboratory scientist. There are substantial sections of the book, however, whic are of relevance to paediatricians...The authors are to be congratuated, 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!." From reviews of previous editions: "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 counseling 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 !"--Journal of Paediatrics and Child Health From reviews of previous editions: "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 counseling 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 C From reviews of previous editions: "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 counseling 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 !"--Journal of Paediatrics and Child Health From reviews of previous editions: "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 counseling 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 !"--Journal of Paediatrics and Child Health From reviews of previous editions: "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. Gardnerand 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 counseling issues and the handling of risk figures. A brief and concise review of chromosomepathology 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, notonly because their book is one of the best of its kind, written in a clear and balanced manner and practically oriented !"--Journal of Paediatrics and Child Healthshow more

Table of contents

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 errorshow more

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