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 |
|---|---|
| Article number | 9783642552885 |
| Media type | eBook - PDF |
| Edition number | 2. Aufl. |
| Copyright year | 2014 |
| Publisher | Springer-Verlag |
| Length | 192 pages |
| Language | English |
| Copy protection | Digital watermarking |
