Uniparental Disomy (UPD) in Clinical Genetics

A Guide for Clinicians and Patients

Nonfiction, Health & Well Being, Health, Ailments & Diseases, Genetic, Medical, Medical Science, Genetics
Cover of the book Uniparental Disomy (UPD) in Clinical Genetics by Thomas Liehr, UNIQUE, Springer Berlin Heidelberg
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Author: Thomas Liehr, UNIQUE ISBN: 9783642552885
Publisher: Springer Berlin Heidelberg Publication: June 26, 2014
Imprint: Springer Language: English
Author: Thomas Liehr, UNIQUE
ISBN: 9783642552885
Publisher: Springer Berlin Heidelberg
Publication: June 26, 2014
Imprint: Springer
Language: English

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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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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