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 |
| Edition | Fifth edition. |
| Publication | New York, NY : Oxford University Press, 2018. |
| Description | 1 online resource : illustrations. |
| Supplemental Content | Direct link to eBook |
| Subjects |
| Uniform title | Chromosome abnormalities and genetic counseling |
| Series | Oxford 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 note | Includes bibliographical references and index. |
| Source of description | Online resource; title from PDF title page (Ebsco, viewed February 12, 2018). |
| Issued in other form | Print 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 |
| ISBN | 9780199329014 (electronic bk.) |
| ISBN | 019932901X (electronic bk.) |
Availability
| Library | Location | Call Number | Status | Item Actions |
|---|---|---|---|---|
| Electronic Resources | Access Content Online | ✔ Available |