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Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients, Hardback Book

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


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.


  • Format: Hardback
  • Pages: 192 pages, 26 Illustrations, color; 10 Illustrations, black and white; XVIII, 192 p. 36 illus., 26 i
  • Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
  • Publication Date:
  • Category: Medical laboratory testing & techniques
  • ISBN: 9783642552878

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