Egesten A, Hägerstrand I, Kristoffersson U, Garwicz S
Department of Paediatrics, University Hospital, Lund, Sweden.
Br J Haematol. 1997 Feb;96(2):369-73. doi: 10.1046/j.1365-2141.1997.9122545.x.
An 11-year-old boy with mental retardation, malformations, and the mosaic karyotype 47,XY,+i(8p)/46,XY presented with fever, headache and petechiae. Peripheral blood WBC was 190 x 10(9)/l; and contained > 90% mature eosinophils. Cytogenetic analysis of the eosinophils revealed no aberrations except the constitutional karyotype. The patient was diagnosed as having a hypereosinophilic syndrome. Shortly after initiation of therapy he died from extensive mural thrombi of the heart and thrombi of several other organs. This is the first case of congenital triplication of the short arm of chromosome 8 associated with hypereosinophilic syndrome, suggesting involvement of genes on chromosome 8p in the regulation of eosinopoiesis.
一名患有智力发育迟缓、畸形且核型为47,XY,+i(8p)/46,XY的11岁男孩出现发热、头痛和瘀点。外周血白细胞计数为190×10⁹/L，其中成熟嗜酸性粒细胞>90%。对嗜酸性粒细胞进行细胞遗传学分析，除了先天性核型外未发现异常。该患者被诊断为高嗜酸性粒细胞综合征。开始治疗后不久，他死于心脏广泛的壁血栓和其他几个器官的血栓。这是首例与高嗜酸性粒细胞综合征相关的8号染色体短臂先天性三体病例，提示8p染色体上的基因参与了嗜酸性粒细胞生成的调节。
