Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients /

• Main Author: Liehr, Thomas (Author)
• Corporate Author: SpringerLink (Online service)
• Format: Electronic eBook
• Language: English
• Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014.
• Subjects: Medicine.; Human genetics.; Cytogenetics.; Laboratory medicine.; Reproductive medicine.; Biomedicine.; Human Genetics.; Reproductive Medicine.; Laboratory Medicine.

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...

Table of Contents:

• 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.