GENOMIC IMPRINTING AND ITS ROLE IN PRADER -WILLI AND ANGELMAN SYNDROMES

Published and our own data, included in the CHRODYS database, on the d ependence of phenotypic abnormalities in mono-, di-, and trisomics at human chromosome 15 on its parental origin are reviewed. The concept i s confirmed that Prader-Willi and Angelman syndromes result from the c ombined effect of gene or chromosome mutations impairing the expressio n of syndrome-specific genes and from genomic imprinting, i.e., repres sion of corresponding genes received from one of the parents.