Uniparental Disomy (UPD) in Clinical Genetics
A Guide for Clinicians and Patients
Inbunden, Engelska, 2014
Av Thomas Liehr
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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.
Produktinformation
- Utgivningsdatum2014-07-10
- Mått155 x 235 x 16 mm
- Vikt482 g
- FormatInbunden
- SpråkEngelska
- Antal sidor192
- Upplaga2014
- FörlagSpringer-Verlag Berlin and Heidelberg GmbH & Co. KG
- ISBN9783642552878