Uniparental Disomy (UPD) in Clinical Genetics
| Autor: | Thomas Liehr |
|---|---|
| EAN: | 9783642552885 |
| eBook Format: | |
| Sprache: | Englisch |
| Produktart: | eBook |
| Veröffentlichungsdatum: | 26.06.2014 |
| Untertitel: | A Guide for Clinicians and Patients |
| Kategorie: | |
| Schlagworte: | Chromosomal aberration Chromosomal disorder Genetic counseling Genotype-phenotype correlation Rare genetic disorders |
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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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