Verma R S, Vedbrat S, Khan F, Dosik H
Ann Genet. 1981;24(1):57-60.
A thirty seven year-old Caucasian female presented with short stature and primary amenorrhea. Employing multiple banding techniques, an isochromosome of the long arm of the X chromosome [i(Xq)] was identified in her peripheral blood and skin fibroblast cultures. This chromosomal abnormality can be interpreted as 46,X,i(X)(qter leads to cen leads to qter). The i(Xq) is late replicating and selectively inactive. The present case was found to have minimal abnormal features when compared with previously published cases. Since patients with i(Xq) have quite variable clinical features, the existence of a distinct clinical entity of "X-isochromosome syndrome" is questioned.
一名37岁的白种女性因身材矮小和原发性闭经前来就诊。采用多种显带技术，在她的外周血和皮肤成纤维细胞培养物中鉴定出一条X染色体长臂的等臂染色体[i(Xq)]。这种染色体异常可解释为46,X,i(X)(qter→cen→qter)。i(Xq)复制较晚且选择性失活。与之前发表的病例相比，本病例的异常特征极少。由于i(Xq)患者的临床特征差异很大，因此有人质疑是否存在一个独特的“X等臂染色体综合征”临床实体。
