Uniparental Disomy (UPD) in Clinical Genetics [electronic resource] : A Guide for Clinicians and Patients / by Thomas Liehr.
Material type:![Text](/opac-tmpl/lib/famfamfam/BK.png)
- text
- computer
- online resource
- 9783642552885
- 611.01816 23
- 599.935 23
- RB155-155.8
- QH431
Item type | Current library | Call number | URL | Status | Notes | Date due | Barcode |
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SARVAJNA LIBRARY, UHS, BAGALKOT | Link to resource | Available | Click on the URL to access eBook |
Introduction -- Formation of UPD -- UPD in diagnostics and genetic counseling -- UPD related syndromes caused by imprinting -- Maternal UPD by chromosome -- Paternal UPD by chromosome -- UPD of unclear parental origin by chromosome -- UPD of multiple chromosomes or chromosomal regions -- Acquired UPD -- Patient organizations in connection with UPD-. Glossary-. References -- Index.
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
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