摘要
目的 报道 2例伴有t(3;5 ) (q2 5 ;q34)的骨髓增生异常综合征 (MDS)。方法 骨髓细胞2 4h培养后按常规方法制备染色体 ,用R显带技术进行细胞遗传学分析 ,并以 3号和 5号染色体涂染探针进行荧光原位杂交 (FISH)检测。结果 2例的临床和血液学改变符合MDS诊断 ;染色体核型分析揭示 2例患者均有一致的核型异常 :4 6 ,XY ,t(3;5 ) (q2 5 ;q34) ;其中 1例患者的双色FISH检测证实 1条3号染色体长臂和 1条 5号染色体长臂之间发生了相互易位。结论 t(3;5 ) (q2 5 ;q34)是一种少见的核型异常 ,它和MDS有特别的联系 ,常有涉及三系的病态造血改变 ;
Objective To report two myelodysplatic syndromes (MDS) patients with t(3;5)(q25;q34). Methods Chromosome specimens were prepared by short term culture of bone marrow cells. Karyotype analysis was performed by R banding technique, chromosome painting (fluorescence in situ hybridization, FISH) by using whole chromosome 3 and 5 probes in case 1. Results The clinical and hematological findings were compatible with diagnosis of MDS. Karyotype analysis showed that both patients had identical t(3;5)(q25;q34) translocation. A reciprocal translocation between chromosomes 3q and 5q was proved by FISH in one patient. Conclusions t(3;5) translocation is a rare chromosome abnormality specifically associated with MDS and frequently displays trilineage dysplasia. Chromosome painting technique is a reliable tool for detecting this translocation.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2002年第6期304-306,共3页
Chinese Journal of Hematology
