Gardner and Sutherland's chromosome abnormalities and genetic counseling / David J. Amor, R.J. McKinlay Gardner.
| Author/creator | Gardner, R. J. M. author. |
| Other author | Amor, David J., author. |
| Format | Electronic |
| Publication | New York, NY, United States of America : Oxford University Press, [2026] |
| Description | 1 online resource. |
| Supplemental Content | Direct link to eBook |
| Subjects |
| Portion of title | Chromosome abnormalities and genetic counseling |
| Series | Oxford monographs medical genetics series ; 73 |
| Abstract | "This book has the lofty aim of defining the discipline of "clinical chromosomology". The wide range of human chromosome abnormality is documented in considerable detail, and alongside this, the counseling issues that arise for the individuals and families in which these abnormalities have been identified. The classical understanding of chromosomal pathology that evolved in the latter half of the twentieth century is reviewed: that is, the well-known trisomies, deletions, and duplication syndromes, and ways in which these may arise de novo, or occur in the setting of a parental chromosome rearrangement. The remarkable advances of this twenty-first century have demanded the addition of much new material, as the methodology of chromosome analysis has moved largely (not entirely) from microscopy to the molecular approach, and concomitantly, the understanding of the range of the clinical applicability of chromosomal pathology has widened. Developments in prenatal diagnosis have allowed population-level testing to be offered, on the basis of a simple blood test. The ability to test the chromosomes of the embryo before implantation, which has been developed only since the turn of the century, has now become a routinely applied procedure, changing the face of how many "translocation couples" deal with the desideratum of having a child with normal chromosomes. This book goes beyond a documentation of chromosome abnormality: it seeks to take a holistic view, looking at the ways in which people and families can come to terms with the chromosomal cards Nature has dealt them"-- Provided by publisher. |
| Bibliography note | Includes bibliographical references and index. |
| Source of description | Print version record. |
| Issued in other form | Print version: Gardner, R. J. M. Gardner and Sutherland's chromosome abnormalities and genetic counseling. New York, NY, United States of America : Oxford University Press, [2026] 9780197747728 |
| ISBN | 9780197747735 (electronic bk.) |
| ISBN | 0197747736 (electronic bk.) |
Availability
| Library | Location | Call Number | Status | Item Actions |
|---|---|---|---|---|
| Electronic Resources | Access Content Online | ✔ Available |