Uniparental Disomy (UPD) in Clinical Genetics
A Guide for Clinicians and Patients
E-Book
Uniparental Disomy (UPD) in Clinical Genetics
A Guide for Clinicians and Patients
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.
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.
| ISBN | 9783642552885 |
|---|---|
| Artikelnummer | 9783642552885 |
| Medientyp | E-Book - PDF |
| Auflage | 2. Aufl. |
| Copyrightjahr | 2014 |
| Verlag | Springer-Verlag |
| Umfang | 192 Seiten |
| Sprache | Englisch |
| Kopierschutz | Digitales Wasserzeichen |
