Click Here to Download: https://ouo.io/2yuePCC Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients By: Thomas Liehr Publisher: Springer Print ISBN: 9783642552878, 3642552870 eText ISBN: 9783642552885, 3642552889 Copyright year: 2014 Format: EPUB Available from $ 99.00 USD SKU 9783642552885 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.
