Burgdorf W, Kurvink K, Cervenka J
J Med Genet. 1977 Aug;14(4):256-7. doi: 10.1136/jmg.14.4.256.
Sister chromatid exchange (SCE) frequency in chromosomes from lymphocytes of a patient with dyskeratosis congenita was 12-2 per mitosis. Our 33 normal controls had a mean of 5-4 SCE per mitosis and 5 patients with Fanconi's anaemia averaged 7-6 SCE per mitosis. The rate of chromosome breakage was only 0-5% in the dyskeratosis congenita patient and 0 to 2-5% in controls, while the Fanconi's anaemia patients showed higher values.
先天性角化不良患者淋巴细胞染色体的姐妹染色单体交换（SCE）频率为每有丝分裂12 - 2次。我们的33名正常对照者平均每有丝分裂有5 - 4次SCE，5名范科尼贫血患者平均每有丝分裂有7 - 6次SCE。先天性角化不良患者的染色体断裂率仅为0 - 5%，对照者为0至2 - 5%，而范科尼贫血患者的数值更高。
