Download book Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients
Download book Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients
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Author: Thomas Liehr
Page Count: 210 pages
Published Date: 10 Jul 2014
Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
Publication Country: Berlin, Germany
Language: English
ISBN: 9783642552878
Download Link: Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients
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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.
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Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients by Thomas Liehr
Author: Thomas Liehr
Page Count: 210 pages
Published Date: 10 Jul 2014
Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
Publication Country: Berlin, Germany
Language: English
ISBN: 9783642552878
Download Link: Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients
---------------------------------------------------------------
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.
Read online Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients Buy Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients Download and read Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients for pc, mac, kindle, readers Download to iPad/iPhone/iOS, B&N nook Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients
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