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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.
| Autorius: | Thomas Liehr |
| Leidėjas: | Springer Berlin Heidelberg |
| Išleidimo metai: | 2016 |
| Knygos puslapių skaičius: | 212 |
| ISBN-10: | 3662511142 |
| ISBN-13: | 9783662511145 |
| Formatas: | 235 x 155 x 12 mm. Knyga minkštu viršeliu |
| Kalba: | Anglų |
Parašykite atsiliepimą apie „Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients“
