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 more

Product details

  • Hardback | 494 pages
  • 160 x 234 x 34mm | 1,219.98g
  • Oxford University Press Inc
  • New York, United States
  • Revised
  • 2nd Revised edition
  • 60 halftones, 82 line figures, bibliography
  • 0195106156
  • 9780195106152

Table of contents

BASIC CONCEPTS; 1. Elements of medical cytogenetics; 2. The origins and consequences of chromosome pathology; 3. Deriving and using a risk figure; PARENT WITH A CHROMOSOMAL ABNORMALITY; 4. Autosomal reciprocal translocations; 5. Sex chromosome translocations; 6. Robertsonian translocations; 7. Centromere fissions; 8. Inversions; 9. Insertions; 10. Autosomal rings; 11. Complex rearrangements; 12. Parental sex chromosome aneuploidy; 13. Parental autosomal aneuploidy; 14. The fragile X syndrome; 15. Variant chromosomes; NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 16. Down syndrome and other full aneuploidy, and polyploidy; 17. Structural rearrangements and uniparental disomy; 18. The XY female, the XX male, and the true hermaphrodite; 19. Chromosome instability syndromes; REPRODUCTIVE FAILURE; 20. Pregnancy loss and infertility; PRENATAL DIAGNOSIS; 21. Parental age counseling and screening for fetal trisomy; 22. Prenatal diagnostic procedures; 23. Chromosome abnormalities detected at prenatal diagnosis; APPENDIXES; A. Cytogenetic abbreviations and nomenclature; B. Ideograms of human chromosomes and haploid autosomal lengths; C. Determining 95 percent confidence limits, and the standard error; References; Indexshow more