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作者报道了两例白肤色女性患者,年龄分别为2.5和33岁。核型为45,X/46,r(X)嵌合型Ullrich-Turner氏综合征,亦有严重智力障碍,神经学的异常,面容呆滞,并且有部分手指和脚趾皮肤性并指(趾)。以前未见报道,是异乎寻常的病例。作者从每位患者取血液淋巴细胞和皮肤细胞进行培养。经常规细胞遗传学程序处理,并采用复制和放射自显影方法研究。取正常健康妇女志愿者白细胞作对照,与此同时对患者中的材料作同样处理。关于BrdU标记细胞X染色体的复制情况,从每位患者和对照的正常人标本中取Ⅲ个周期细胞
The authors reported two cases of white-skinned women aged 2.5 and 33 years old. Karyotype 45, X / 46, r (X) chimeric Ullrich-Turner’s syndrome, also have serious mental retardation, neurological abnormalities, dull face, and some fingers and toes skin and finger (toe) . No previous report, is an unusual case. Authors took blood lymphocytes and skin cells from each patient for culture. Processed by routine cytogenetics and replicated and autoradiographed. Normal healthy women volunteer white blood cells as a control, at the same time, the patient’s material for the same treatment. Regarding the replication of BrdU-labeled cells X chromosomes, three cycles of cells from each patient and control normal human specimens