bokomslag Uniparental Disomy (UPD) in Clinical Genetics
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Uniparental Disomy (UPD) in Clinical Genetics

Thomas Liehr

Pocket

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Andra format:

  • 192 sidor
  • 2016
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.
  • Författare: Thomas Liehr
  • Format: Pocket/Paperback
  • ISBN: 9783662511145
  • Språk: Engelska
  • Antal sidor: 192
  • Utgivningsdatum: 2016-08-23
  • Förlag: Springer-Verlag Berlin and Heidelberg GmbH & Co. K