About this book
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.
- DOI https://doi.org/10.1007/978-3-642-55288-5
- Copyright Information Springer-Verlag Berlin Heidelberg 2014
- Publisher Name Springer, Berlin, Heidelberg
- eBook Packages Biomedical and Life Sciences
- Print ISBN 978-3-642-55287-8
- Online ISBN 978-3-642-55288-5
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