Teerenhovi L
Department of Medical Genetics, University of Helsinki, Finland.
Eur J Haematol. 1987 Oct;39(4):326-30. doi: 10.1111/j.1600-0609.1987.tb00777.x.
83 patients with myelodysplastic syndromes were analyzed for the presence of three haematological features: (1) macrocytic anaemia, (2) normal or high platelet count and (3) megakaryocytic hypolobulation in most megakaryocytes. In 10 of the 83 patients, a 5q- chromosome was the only clonal aberration; 31 patients had other chromosomal aberrations (including 6 patients with 5q- chromosome and other abnormalities in the same clone) and 42 patients had a normal karyotype in their bone marrow cells. 9 patients displayed all three haematological features investigated. In 8 of these patients the 5q- chromosome was the only clonal aberration. The 9th patient had a karyotype of 47,XX, + 8. None of the 6 patients with 5q- chromosome and additional abnormalities in the same clone fulfilled all criteria. The '5q- syndrome', a situation with the 5q- chromosome as a sole aberration, should be accepted as a diagnostic entity within the macrocytic anaemias. This syndrome can be suspected on the basis of the above haematological indicators and the diagnosis confirmed with bone marrow karyotype analysis.
对83例骨髓增生异常综合征患者进行分析，以确定是否存在三种血液学特征：（1）大细胞性贫血，（2）血小板计数正常或升高，以及（3）大多数巨核细胞存在巨核细胞分叶过少。在这83例患者中，10例患者的唯一克隆性畸变是5号染色体长臂缺失（5q-）；31例患者有其他染色体畸变（包括6例5q-染色体且同一克隆中有其他异常的患者），42例患者的骨髓细胞核型正常。9例患者表现出所研究的所有三种血液学特征。其中8例患者的唯一克隆性畸变是5q-染色体。第9例患者的核型为47,XX,+8。6例5q-染色体且同一克隆中有其他异常的患者均未满足所有标准。“5q-综合征”，即5q-染色体作为唯一畸变的情况，应被视为大细胞性贫血中的一个诊断实体。基于上述血液学指标可怀疑该综合征，通过骨髓核型分析确诊。
