Junge A, Domke N, Tolkendorf E
Klinik und Poliklinik für Gynäkologie und Geburtshilfe, Medizinischen Akademie Carl Gustav Carus Dresden, Bundesrepublik Deutschland.
Zentralbl Gynakol. 1991;113(19):1046-52, 1057-8.
We report on a cytogenetic investigation of lymphocytes in 241 couples and six women with at least three abortions. We found a balanced reciprocal translocation three times (1.2% of couples) and a balanced Robertsonian translocation twice (0.8% of couples). Four numerical aberrations of the gonosomes were detected (three of them as a mosaic), and one deletion Xq- as a mosaic. The heterochromatic region of the chromosomes 1, 9 or 16 was enlarged in 12 couples (4.9%). There was no couple with a pericentric inversion of the chromosomes 1 or 9. The enlarged Y-chromosome (five males) according to our results does not play any important role for the reproduction. Five translocations and one supernumerary chromosome each in one cell only indicate an enlarged frequency of breakage events in couples with habitual abortion.
我们报告了对241对夫妇及6名至少有三次流产经历的女性淋巴细胞进行的细胞遗传学研究。我们发现三次平衡易位(占夫妇总数的1.2%)和两次平衡罗伯逊易位(占夫妇总数的0.8%)。检测到4个性染色体数目异常(其中3例为嵌合体),1例Xq-缺失为嵌合体。1、9或16号染色体的异染色质区域在12对夫妇中增大(4.9%)。没有夫妇存在1号或9号染色体的臂间倒位。根据我们的结果,Y染色体增大(5名男性)对生殖没有任何重要作用。仅在一个细胞中各出现一次的5次易位和1条额外染色体,仅表明习惯性流产夫妇中断裂事件的频率增加。