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Cover Art
PRINTED BOOKS
Author Gardner, R. J. M.

Title Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland.

Published New York : Oxford University Press, 2004 [that is, 2003]

Copies

Location Call No. Status
 UniM BioMed  616.042 GARD    AVAILABLE
Edition 3rd ed.
Physical description xviii, 577 pages : illustrations ; 26 cm.
Series Oxford monographs on medical genetics ; no. 46.
Oxford monographs on medical genetics ; no. 46.
Bibliography Includes bibliographical references (pages 457-555) and index.
Contents 1. Elements of medical cytogenetics 3 -- 2. Origins and consequences of chromosome pathology 21 -- 3. Deriving and using a risk figure 50 -- Parent with a Chromosomal Abnormality -- 4. Autosomal reciprocal translocations 59 -- 5. Sex chromosome translocations 98 -- 6. Robertsonian translocations 122 -- 7. Centromere fissions, complementary isochromosomes, and telomeric fusions 138 -- 8. Inversions 142 -- 9. Insertions 163 -- 10. Autosomal ring chromosomes 178 -- 11. Complex rearrangements 186 -- 12. Parental sex chromosome aneuploidy 195 -- 13. Parental autosomal aneuploidy 210 -- 14. Fragile X syndromes 218 -- 15. Variant chromosomes and abnormalities of no phenotypic consequence 233 -- Normal Parents with a Chromosomally Abnormal Child -- 16. Down syndrome, other full aneuploidies, and polyploidy 249 -- 17. Structural rearrangements 264 -- 18. XY female, the XX male, and the true hermaphrodite 294 -- 19. Chromosome instability syndromes 301 -- Disorders Associated with Aberrant Genomic Imprinting -- 20. Uniparental disomy and disorders of imprinting 311 -- Reproductive Failure -- 21. Gametogenesis and conception, pregnancy loss, and infertility 339 -- Prenatal Diagnosis -- 22. Parental age counseling and screening for fetal trisomy 363 -- 23. Prenatal diagnostic procedures 373 -- 24. Preimplantation genetic diagnosis 381 -- 25. Chromosome abnormalities detected at prenatal diagnosis 392 -- Noxious Agents -- 26. Gonadal cytogenetic damage from exposure to extrinsic agents 435 -- A. Ideograms of human chromosomes and haploid autosomal lengths 447 -- B. Cytogenetic abbreviations and nomenclature 452 -- C. Determining 95 percent confidence limits and the standard error 456.
Other author Sutherland, Grant R.
Subject Genetic counseling.
Human chromosome abnormalities -- Patients -- Counseling of.
ISBN 0195149602 (alk. paper)