Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral blood
Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral blood
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先天性8号三体嵌合体中再生障碍性贫血继发白血病：外周血中多形核细胞的超微结构研究
DOI：
10.1111/j.1399-0004.1976.tb01559.x
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发表时间：
1976
影响因子：
3.5
通讯作者：
M. Djaldetti
中科院分区：
文献类型：
--
作者：
U. Gafter;F. Shabtai;Y. Kahn;I. Halbrecht;M. Djaldetti
一个40岁的先天性8三体和性染色体嵌合体的患者的情况进行了讨论。主要临床特征为：精神发育迟滞、厚而黑的皮肤、前额突出、会聚性斜视、高弓腭、四肢屈曲挛缩和许多骨骼异常。该患者出现重度再生障碍性贫血，随后出现白血病前期，并发展为急性白血病。再生障碍性贫血阶段的白色血细胞的电子显微镜检查显示出与在具有白血病易感性的其他遗传性疾病以及白血病中观察到的类似的超微结构异常。
The case of a 40‐year‐old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pig‐mented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.