Uniparental Disomy (UPD) in Clinical Genetics : A Guide for Clinicians and Patients Hardback
by Thomas Liehr
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.
- Format: Hardback
- Pages: 192 pages, 26 Illustrations, color; 10 Illustrations, black and white; XVIII, 192 p. 36 illus., 26 i
- Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
- Publication Date: 26/06/2014
- Category: Medical laboratory testing & techniques
- ISBN: 9783642552878
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