Mglinets V A, Levina L Ia, Konstantinova L M
Genetika. 1996 Dec;32(12):1605-15.
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.
回顾了已发表的以及我们自己的、纳入CHRODYS数据库的关于人类15号染色体单体、双体和三体中表型异常对其亲本来源依赖性的数据。以下概念得到证实：普拉德-威利综合征和安吉尔曼综合征是由损害综合征特异性基因表达的基因或染色体突变以及基因组印记（即来自父母一方的相应基因的抑制）共同作用导致的。
