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Chromosome abnormalities and genetic counseling

Author: R J M Gardner; Grant R Sutherland
Publisher: New York : Oxford University Press, 2004.
Series: Oxford monographs on medical genetics, no. 46.
Edition/Format:   Print book : English : 3rd edView all editions and formats
Summary:
Written for genetic counselors and cytogenetic laboratory workers, this book presents the theoretical basis of clinical cytogenetics.
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Genre/Form: Illustrations
Material Type: Internet resource
Document Type: Book, Internet Resource
All Authors / Contributors: R J M Gardner; Grant R Sutherland
ISBN: 0195149602 9780195149609
OCLC Number: 51216022
Description: xviii, 577 pages, [4] pages of plates : illustrations (some color) ; 26 cm.
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 --
References --
Index.
Series Title: Oxford monographs on medical genetics, no. 46.
Responsibility: R.J. McKinlay Gardner, Grant R. Sutherland.
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Abstract:

Addresses questions concerning chromosome abnormalities. This book is useful for genetic counsellors, medical geneticists, paediatricians and obstetricians, infertility specialists, and laboratory  Read more...

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"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 Read more...

 
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