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Beschreibung
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.
A Guide for Clinicians and Patients
A Guide for Clinicians and Patients
Details
| Verlag | Springer Berlin |
| Ersterscheinung | 10. Juli 2014 |
| Maße | 23.5 cm x 15.5 cm |
| Gewicht | 489 Gramm |
| Format | Hardcover |
| ISBN-13 | 9783642552878 |
| Seiten | 192 |
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