Iskandar O, Jager M J, Willenze R, Natarajan A T
Hum Genet. 1980;55(3):337-40. doi: 10.1007/BF00290214.
A patient with a pure red cell aplasia (Blackfan-Diamond Anemia), and with many congenital abnormalities and growth retardation, has been found to have a chromosome breakage syndrome. In this patient, the frequencies of spontaneous chromosome aberrations and micronuclei in PHA stimulated peripheral blood lymphocytes are elevated when compared to those in normal individuals. The frequency of sister chromatid exchanges is within normal range. The response to mitomycin C (MMC) in the micronucleus test, using lymphocytes, shows a similar increase in the patient's lymphocytes to that in normal individuals, indicating no increased sensitivity to MMC. The frequencies of X-ray induced dicentric chromosomes and micronuclei in the peripheral blood lymphocytes are elevated in the patient. But as the patient clinically does not have any signs of ataxia telangiectasia, this combination of clinical and laboratory findings of this case does not correspond with any of the other known 'chromosome breakage' syndromes.
一名患有纯红细胞再生障碍性贫血（黑范-戴蒙德贫血）、伴有多种先天性异常和生长发育迟缓的患者，被发现患有染色体断裂综合征。与正常个体相比，该患者PHA刺激的外周血淋巴细胞中自发染色体畸变和微核的频率升高。姐妹染色单体交换频率在正常范围内。使用淋巴细胞进行的微核试验中，患者淋巴细胞对丝裂霉素C（MMC）的反应与正常个体相似，表明对MMC的敏感性没有增加。患者外周血淋巴细胞中X射线诱导的双着丝粒染色体和微核的频率升高。但由于该患者临床上没有共济失调毛细血管扩张症的任何体征，该病例的临床和实验室检查结果组合不符合任何其他已知的“染色体断裂”综合征。
