Gardner and Sutherland's chromosome abnormalities and genetic counseling /
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Main Authors: | |
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Group Author: | |
Published: |
Oxford University Press,
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Publisher Address: | New York, NY : |
Publication Dates: | [2018] |
Literature type: | Book |
Language: | English |
Edition: | Fifth edition. |
Series: |
Oxford monographs on medical genetics ; number 70. |
Subjects: | |
Item Description: | Preceded by Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. c2012. |
Carrier Form: | xii, 714 pages, 4 unnumbered pages of plates : illustrations (some color) ; 27 cm. |
Bibliography: | Includes bibliographical references (pages 571-697) and index. |
ISBN: |
9780199329007 0199329001 |
Index Number: | RB155 |
CLC: | R596.1 |
Call Number: | R596.1/G228/5th ed. |
Contents: | Elements of medical cytogenetics -- Chromosome analysis -- The origins and consequences of chromosome pathology -- Deriving and using a risk figure -- Autosomal reciprocal translocations -- Sex chromosome translocations -- Robertsonian translocations -- Insertions -- Inversions -- Complex chromosomal rearrangements -- Autosomal ring chromosomes -- Rare conditions : centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, neocentromeres, jumping translocations, and chromothripsis -- Down syndrome, other full aneuploidies, polyploidy, and the influence of parental age -- Autosomal structural rearrangements : deletions and duplications -- Sex chromosome aneuploidy and structural rearrangement -- Chromosome instability syndromes -- Normal chromosomal variation -- Uniparental disomy and disorders of imprinting -- Reproductive failure -- Prenatal testing procedures -- Chromosome abnormalities detected at prenatal diagnosis -- Preimplantation genetic diagnosis -- Chromosomal disorders of sex development -- Gonadal cytogenetic damage from exposure to extrinsic agents. |