[Download] ~ Uniparental Disomy (UPD) in Clinical Genetics by Thomas Liehr ~ eBook PDF Kindle ePub Free

eBook details

Title: Uniparental Disomy (UPD) in Clinical Genetics
Author : Thomas Liehr
Release Date : January 26, 2014
Genre: Genetics,Books,Professional & Technical,Medical,Health, Mind & Body,Health & Fitness,
Pages : * pages
Size : 2583 KB

Description

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.