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


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.


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

Authors and affiliations

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

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