Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling

4.42 (7 ratings by Goodreads)
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Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.
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Product details

  • Hardback | 648 pages
  • 182.88 x 254 x 40.64mm | 1,428.81g
  • Oxford University Press
  • Oxford, United Kingdom
  • English
  • Revised
  • 4th Revised edition
  • 0195375335
  • 9780195375336
  • 214,560

About R. J. MKinlay Gardner

Lisa G. Shaffer is President of Signature Genomic Laboratories. R.J. McKinlay Gardner is a Consultant Medical Geneticist at Northern Regional Genetic Service at Auckland City Hospital. Grant R. Sutherland is an Emeritus Geneticist at Women's and Children's Hospital in Adelaide, Australia.
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Table of contents

Contents ; BASIC CONCEPTS ; 1. Elements of medical cytogenetics ; 2. Chromosome analysis: classical and modern methodologies ; 3. The origins and consequences of chromosomal pathology ; 4. Deriving and using a risk figure ; PARENT WITH A CHROMOSOMAL ABNORMALITY ; 5. Autosomal reciprocal translocations ; 6. Sex chromosome translocations ; 7. Robertsonian translocations ; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations ; 9. Inversions ; 10. Insertions ; 11. Autosomal ring chromosomes ; 12. Complex rearrangements ; 13. Parental sex chromosome aneuploidy ; 14. Parental autosomal aneuploidy ; 15. The fragile X syndromes ; VARIANTS ; 16. Variant chromosomes and abnormalities of no phenotypic consequence ; 17. Copy number variants ; NORMAL PARENT WITH A CHROMOSOMALLY ABNORMAL CHILD ; 18. Down syndrome, other full aneuploidies, and polyploidy ; 19. Structural rearrangements ; 20. Chromosomal disorders of sex development ; 21. Chromosome instability syndromes ; DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING ; 22. Uniparental disomy and disorders of imprinting ; REPRODUCTIVE FAILURE ; 23. Gametogenesis and conception, pregnancy loss, and infertility ; PRENATAL DIAGNOSIS ; 24. Parental age counseling and screening for fetal trisomy ; 25. Prenatal diagnostic procedures ; 26. Preimplantation genetic diagnosis ; 27. Chromosome abnormalities detected at prenatal diagnosis ; NOXIOUS AGENTS ; 28. Gonadal cytogenetic damage from exposure to extrinsic agents ; APPENDICES ; A. Ideograms of human chromosomes and haploid autosomal lengths ; B. Cytogenetic abbreviations and nomenclature ; C. Determining 95 per cent confidence limits and the standard error ; References ; Index
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Review quote

...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 * 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 * 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 * Review(s) from other edition(s)
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