Oxford J M, Harnden D G, Parrington J M, Delhanty J D
J Med Genet. 1975 Sep;12(3):251-62. doi: 10.1136/jmg.12.3.251.
Cytogenetic observations on seven cases of ataxia telangiectasia are presented. The aberration frequency was found to be increased in all of them with a specificity for the involvement of the D-group chromosomes in rearrangements. Clones of cytogenetically abnormal cells were observed in the lymphocytes of three cases and in the cultured skin fibroblasts of two cases, again with a specificity for D-group involvement. G-banding shows that chromosome 14 is frequently involved in rearrangements in clone cells and that the band 14q12 may be a highly specific exchange point. The significance of lymphocyte clones with a proliferative advantage in vivo is discussed. Cytogenetic studies of the parents and sibs of these cases are also reported.
本文报道了7例共济失调毛细血管扩张症的细胞遗传学观察结果。发现所有病例的畸变频率均有所增加，且重排中D组染色体受累具有特异性。在3例患者的淋巴细胞和2例患者的培养皮肤成纤维细胞中观察到细胞遗传学异常细胞克隆，同样D组受累具有特异性。G显带显示，14号染色体在克隆细胞的重排中经常受累，14q12带可能是一个高度特异性的交换点。讨论了体内具有增殖优势的淋巴细胞克隆的意义。还报道了这些病例的父母和兄弟姐妹的细胞遗传学研究结果。
