Niederauer H H, Bohnert E, Altmeyer P, Jung E G
Dermatologische Klinik, Ruhr-Universität im St. Josef-Hospital Bochum.
Hautarzt. 1992 Jan;43(1):25-7.
A 6 year-old boy with de Sanctis-Cacchione syndrome is reported. This syndrome is characterized by the triad xeroderma pigmentosum (XP), mental deficiency and neurological disturbances. The patient's cells were assigned to genetic complementation group A by use of the cell fusion technique. DNA repair capacity as measured by unscheduled DNA synthesis (UDS) was drastically reduced to 7.5%, compared with 100% of the controls. The rate of sister chromatid exchange (SCE), an indicator of the hypermutability in XP, was clearly elevated after ultraviolet radiation of skin fibroblasts of the patient.
报告了一名患有德桑蒂斯 - 卡乔内综合征的6岁男孩。该综合征的特征为色素性干皮病（XP）、智力缺陷和神经功能障碍三联征。通过细胞融合技术，将患者的细胞归为遗传互补组A。通过非预定DNA合成（UDS）测量的DNA修复能力急剧下降至7.5%，而对照组为100%。患者皮肤成纤维细胞经紫外线照射后，作为XP中高突变性指标的姐妹染色单体交换（SCE）率明显升高。
