【摘要】 本文报道一位22岁女性,体矮、原发闭经、智力低下、第二性征缺乏,其核型为48,X,ter rea(X;X)(qter→cen→p22.3::p22.3→qter),这条重排染色体有正常X染色体二倍大,在着丝粒和假着丝粒区可见结构异染色质,但只有一个初级缢痕,细胞分裂稳定,全部部是迟复制。本文还对迟复制tX/X染包体(qter→cen→922.3::p22.3→qter)DNA复制类型,不同细胞和同一细胞中易传染色体的2个部分的DNA复制类型进行了分析。更多还原

【Abstract】 A 22-year-old girl of short stature, with primary amenorrhea, mental retardation and failure to exhibit secondary sexual charateristics was found to have a 46, X, ter rea(X;X)(qter→cen 22.3::p22.3→qter) karyotype in her lymphocytes.The rearranged chromosome was twice the size of a normal X, and had at both the centromere and pseudocentromere regions constitutive heterochromatins, but only one primary constriction. It was mitotically stable, and always showed late replication. The results of a detailed analysis of DNA replication pattern in the late replicating tX/X chromosome (qtcr→cen→p22.3::p22.3→>qtet)were reported. The chronology of DNA replication has been analyzed by comparing the replication pattern of the two moieties with each other in the same cell.更多还原