Uniparental Disomy (UPD) in Clinical Genetics
A Guide for Clinicians and Patients
Authors: Liehr, Thomas
Free Preview- 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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- About this book
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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
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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)
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Introduction
Pages 1-12
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Formation of UPD
Pages 13-37
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UPD in Diagnostics and Genetic Counseling
Pages 39-47
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UPD Related Syndromes Caused by Imprinting
Pages 49-77
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Maternal UPD by Chromosome
Pages 79-111
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Table of contents (10 chapters)
- Download Preface 1 PDF (70.2 KB)
- Download Sample pages 2 PDF (1.1 MB)
- Download Table of contents PDF (260.8 KB)
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Bibliographic Information
- Bibliographic Information
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- Book Title
- Uniparental Disomy (UPD) in Clinical Genetics
- Book Subtitle
- A Guide for Clinicians and Patients
- Authors
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- Thomas Liehr
- 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
- 10 b/w illustrations, 26 illustrations in colour
- Topics
