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Description
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.
Table of Contents
Introduction.- Formation of UPD.- UPD in diagnostics and genetic counseling.- UPD related syndromes caused by imprinting.- Maternal UPD by chromosome.- Paternal UPD by chromosome.- UPD of unclear parental origin by chromosome.- UPD of multiple chromosomes or chromosomal regions.- Acquired UPD.- Patient organizations in connection with UPD-. Glossary-. References.- Index.
