Silengo M C, Davi G, Crua G, Franceschini P
Hum Genet. 1978 Jun 27;42(3):323-6. doi: 10.1007/BF00291314.
An 8-year-old male with mental retardation, speech difficulties, and minor congenital anomalies is presented. The clinical findings suggest the trisomy-8 syndrome. The karyotype indicates trisomy-8 mosaicism with trisomic as well as normal cell lines in blood lymphocytes.
报告一名8岁男性,有智力发育迟缓、言语困难及轻微先天性异常。临床检查结果提示8三体综合征。核型分析显示8三体嵌合体,血液淋巴细胞中存在三体细胞系及正常细胞系。