Uniparental Disomy (UPD) in Clinical Genetics
A Guide for Clinicians and Patients
Nonfiction, Health & Well Being, Health, Ailments & Diseases, Genetic, Medical, Medical Science, Genetics
| Author: | Thomas Liehr, UNIQUE | ISBN: | 9783642552885 |
| Publisher: | Springer Berlin Heidelberg | Publication: | June 26, 2014 |
| Imprint: | Springer | Language: | English |
| Author: | Thomas Liehr, UNIQUE |
| ISBN: | 9783642552885 |
| Publisher: | Springer Berlin Heidelberg |
| Publication: | June 26, 2014 |
| Imprint: | Springer |
| Language: | English |
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.
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.
