Free PDF BookUniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients

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[Download Ebook.eRf4] Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients

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Book Details :
Published on: 2014-06-26
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Original 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. CPB 0140 - Genetic Testing - Aetna Number: 0140. Policy. Aetna considers genetic testing medically necessary to establish a molecular diagnosis of an inheritable disease when all of the following are met: Beckwith-Wiedemann Syndrome - NORD (National Organization ... General Discussion Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in ...
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