Uniparental Disomy (UPD) in Clinical Genetics

A Guide for Clinicians and Patients

Authors: Liehr, Thomas

  • First book on this topic
  • The author is a leading expert in the field and his laboratory is collecting all published cases
  • Written in collaboration with a family support group
  • With numerous patient reports
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eBook $59.99
price for USA (gross)
  • ISBN 978-3-642-55288-5
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $79.99
price for USA
  • ISBN 978-3-642-55287-8
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $79.99
price for USA
  • ISBN 978-3-662-51114-5
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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.

Reviews

From the book reviews:

“The book discusses basic concepts avoiding technological language, making book accessible for both lay people and clinical geneticists. … This is a highly specialized book on a specific molecular/cytogenetic process. … It should be a great aid for clinical geneticists to make them aware of the phenotype expected in situations where UPD is involved. Patients with UPD and their parents may find the book informative.” (Luis F. Escobar, Doody’s Book Reviews, September, 2014)

Table of contents (10 chapters)

Buy this book

eBook $59.99
price for USA (gross)
  • ISBN 978-3-642-55288-5
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $79.99
price for USA
  • ISBN 978-3-642-55287-8
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $79.99
price for USA
  • ISBN 978-3-662-51114-5
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Uniparental Disomy (UPD) in Clinical Genetics
Book Subtitle
A Guide for Clinicians and Patients
Authors
Copyright
2014
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-55288-5
DOI
10.1007/978-3-642-55288-5
Hardcover ISBN
978-3-642-55287-8
Softcover ISBN
978-3-662-51114-5
Edition Number
1
Number of Pages
XVIII, 192
Number of Illustrations and Tables
10 b/w illustrations, 26 illustrations in colour
Topics