Uniparental Disomy Upd In Clinical Genetics
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Uniparental Disomy (UPD) in Clinical Genetics
Author | : Thomas Liehr |
Publisher | : Springer |
Total Pages | : 201 |
Release | : 2014-06-26 |
Genre | : Medical |
ISBN | : 3642552889 |
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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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