患儿经常发生感染，肝、脾、淋巴结增大Down综合征、Fanconi综合征、神经纤维瘤Ⅰ型（NF-1）、Bloom综合征、先天性中性粒细胞减少、血小板储存池病、家族性-7综合征、线粒体细胞病、非特异性免疫缺陷以及不能分类的其他先天性异常等，这些患儿发病年龄大多大于2岁，AML的转化率较原发性儿童MDS为低。
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