Verlinskaia D K, Mashkova M V
Tsitologiia. 1977 Nov;19(11):1276-8.
The large submetacentric abnormal late replicating X-chromosomes were found in three patients under karyological studies of 168 patients with Turner's syndrome. G- and C-banding revealed that abnormal chromosomes are three variants of isodicentric chromosomes resulting from the junction of the short arms of two X-chromosomes. The patients' karyotypes are respectively: 45,X/46,X,dic (X)(qter leads to p22: :p22 leads to qter); 46X,dic(X)(qter leads to p21: :p21 leads to qter); 46,X/46,X,dic(X)(qter leads to p11: :p11 leads to qter). All the three patients had different size deficiencies of the short arm of the X-chromosome. Partial X-monosomy caused the appearance of features of the Turner syndrome, which was less expressed in our patients compared to those with the entire X-monosomy.
在对168例特纳综合征患者进行染色体研究时,发现3例患者存在大的亚中着丝粒异常晚复制X染色体。G带和C带分析显示,异常染色体是由两条X染色体短臂连接形成的三种等臂染色体变体。患者的核型分别为:45,X/46,X,dic(X)(qter→p22::p22→qter);46,X,dic(X)(qter→p21::p21→qter);46,X/46,X,dic(X)(qter→p11::p11→qter)。所有3例患者的X染色体短臂均存在不同程度的缺失。部分X单体导致了特纳综合征特征的出现,与完全X单体患者相比,我们的患者中该特征表现较轻。