Uniparental Disomy (UPD) in Clinical Genetics

A Guide for Clinicians and Patients

  • Thomas Liehr

Table of contents

  1. Front Matter
    Pages i-xviii
  2. Thomas Liehr
    Pages 1-12
  3. Thomas Liehr
    Pages 13-37
  4. Thomas Liehr
    Pages 79-111
  5. Thomas Liehr
    Pages 113-142
  6. Thomas Liehr
    Pages 153-155
  7. Back Matter
    Pages 163-192

About this book

Introduction

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.

Keywords

Chromosomal aberration Chromosomal disorder Genetic counseling Genotype-phenotype correlation Rare genetic disorders

Authors and affiliations

  • Thomas Liehr
    • 1
  1. 1.Institut für HumangenetikUniversitätsklinikum JenaJenaGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-55288-5
  • Copyright Information Springer-Verlag Berlin Heidelberg 2014
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-642-55287-8
  • Online ISBN 978-3-642-55288-5
  • About this book
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Biotechnology
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