家族性骨髓发育异常：与7号染色体单体出现相关的进行性疾病。
Familial myelodysplasia: progressive disease associated with emergency of monosomy 7.
作者信息
Paul B, Reid M M, Davison E V, Abela M, Hamilton P J
出版信息
Br J Haematol. 1987 Mar;65(3):321-3. doi: 10.1111/j.1365-2141.1987.tb06860.x.
Two brothers developed hypoplastic anaemia with the development in one of refractory anaemia with excess blasts (RAEB) accompanied by emergence of monosomy 7. Both brothers have a constitutional inversion of chromosome 1. Neither shows the increased chromosomal fragility of Fanconi's anaemia or its variants. This family is the third reported in which monosomy 7 has been found when leukaemic or preleukaemic transformation has occurred in patients with familial hypoplastic anaemia.
两兄弟患再生障碍性贫血，其中一人发展为难治性贫血伴原始细胞过多（RAEB），并伴有7号染色体单体出现。两兄弟均有1号染色体的先天性倒位。两人均未表现出范可尼贫血或其变异型的染色体脆性增加。这个家族是第三个被报道的家族性再生障碍性贫血患者发生白血病或白血病前期转化时发现7号染色体单体的家族。
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