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Chromosome Abnormalities and Genetic Counseling

Third Edition

R. J. McKinlay Gardner and Grant R. Sutherland

Price: £44.00 (hardback)
ISBN-13: 978-0-19-514960-9
Publication date: 16 October 2003
604 pages, 155 halftones & line illus; 20 color illus., 254x170 mm
Series: Oxford Monographs on Medical Genetics number No. 46
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Reviews

'From reviews of the previous edition:' -
'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 counselling 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, but also because of their antipodean origins!' - Journal of Paediatrics and Child Health

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.

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 ABNOMALITY

4. Autosomal reciprocal translocations

5. Sex chromosome translocations

6. Robertsonian translocations

7. Centromere fissions and complementary isochromosomes

8. Inversions

9. Insertions

10. Autosomal rings

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

NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD

16. Down syndrome and other full aneuploidy, and polyploidy

17. Structural rearrangements

18. The XY female, the XX male, and the true hemaphrodite

19. Chromosome instability syndromes

DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING

20. Uniparental disomy and disorders of imprinting

REPRODUCTIVE FAILURE

21. Gametogenesis and conception, pregnancy loss and fertility

22. Parental age counseling and screening for fetal trisomy

23. Prenatal diagnostic procedures

24. Preimplantation diagnosis

25. Chromosome abnormalities detected at prenatal diagnosis

NOXIOUS AGENTS

26. Gametic chromosomal damage due to exposure to extrinsic agents

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

Authors, editors, and contributors

R. J. McKinlay Gardner, Consultant Geneticist, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne and
Grant R. Sutherland, Director, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital Adelaide (Retired)

Links to web resources and related information

More in the same subject area:
Medical genetics
Reproductive medicine
Human growth & development
Paediatric medicine
Congenital diseases & disorders
Hereditary diseases & disorders

The specification in this catalogue, including without limitation price, format, extent, number of illustrations, and month of publication, was as accurate as possible at the time the catalogue was compiled. Occasionally, due to the nature of some contractual restrictions, we are unable to ship a specific product to a particular territory. Jacket images are provisional and liable to change before publication.