Uniparental Disomy (UPD) in Clinical Genetics [recurso electrónico] A Guide for Clinicians and Patients

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. Front Matter....Pages i-xviii Introduction....Pages 1-12 Formation of UPD....Pages 13-37 UPD in Diagnostics and Genetic Counseling....Pages 39-47 UPD Related Syndromes Caused by Imprinting....Pages 49-77 Maternal UPD by Chromosome....Pages 79-111 Paternal UPD by Chromosome....Pages 113-142 UPD of Unclear Parental Origin by Chromosome....Pages 143-150 UPD of Multiple Chromosomes or Chromosomal Regions....Pages 151-151 Acquired UPD....Pages 153-155 Patient Organizations in Connection with UPD....Pages 157-161 Back Matter....Pages 163-192