[Genomic imprinting and its role in Prader-Willi and Angelman syndromes].
Published and our own data, included in the CHRODYS database, on the dependence of phenotypic abnormalities in mono-, di-, and trisomics at human chromosome 15 on its parental origin are reviewed. The concept is confirmed that Prader-Willi and Angelman syndromes result from the combined effect of gene or chromosome mutations impairing the expression of syndrome-specific genes and from genomic imprinting, i.e., repression of corresponding genes received from one of the parents.
Mglinets
V A
VA
Levina
L Ia
LIa
Konstantinova
L M
LM
D017204:Angelman Syndrome / Q000235:genetics*; D000818:Animals; D002884:Chromosomes, Human, Pair 15; D015321:Gene Rearrangement; D018392:Genomic Imprinting; D006801:Humans; D008322:Mammals / Q000235:genetics; D051379:Mice; D009154:Mutation; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*
Genomnyĭ imprinting i sindromy Pradera-Villi i Endzhel'mena.