Wehinger H, Niederhoff H, Bethge D, Künzer W, Hoehn H, Cohen G
Klin Wochenschr. 1975 May 1;53(9):431-6. doi: 10.1007/BF01493368.
The authors report on an infant with myeloproliferative syndrome of the myelomonocytic type. The findings fulfilled the criteria for juvenile chronic myeloid leukemia except that there was no increase of fetal hemoglobulin and no depression of erythrocyte carbonic anhydrase I. In one half of the bone marrow cells a Ph1-chromosome was found. During the course of the disease the Ph1-positive clone was successively replaced by cell lines with different chromosomal aberrations. The relationship between the cytogenetic mosaicism and the clinical and laboratory findings is discussed.
作者报告了一名患有骨髓单核细胞型骨髓增殖综合征的婴儿。除胎儿血红蛋白未增加且红细胞碳酸酐酶I未降低外,这些发现符合青少年慢性髓性白血病的标准。在一半的骨髓细胞中发现了Ph1染色体。在疾病过程中,Ph1阳性克隆逐渐被具有不同染色体畸变的细胞系所取代。讨论了细胞遗传学镶嵌现象与临床和实验室检查结果之间的关系。