Gardner and Sutherland's chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, David J. Amor.

Author/creator Gardner, R. J. M. author.
Other author Amor, David J., author.
Format Electronic
EditionFifth edition.
PublicationNew York, NY : Oxford University Press, 2018.
Description1 online resource : illustrations.
Supplemental ContentDirect link to eBook
Subjects

Uniform titleChromosome abnormalities and genetic counseling
SeriesOxford monographs on medical genetics
Oxford monographs on medical genetics. ^A873
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.
Summary This work is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition represents a leap forward in clinical understanding and communication.
Bibliography noteIncludes bibliographical references and index.
Source of descriptionOnline resource; title from PDF title page (Ebsco, viewed February 12, 2018).
Issued in other formPrint version: Gardner, R.J.M. Chromosome abnormalities and genetic counseling. Gardner and Sutherland's chromosome abnormalities and genetic counseling. Fifth edition. New York, NY : Oxford University Press, [2018] 9780199329007
ISBN9780199329014 (electronic bk.)
ISBN019932901X (electronic bk.)

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