Uniparental Disomy (UPD) in Clinical Genetics

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.

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.