Osborne R A, Hennigar G R, Barnett C D
Am J Ment Defic. 1975 May;79(6):644-7.
Three cases having typical mongoloid features and few or no features of Turner's syndrome were reported. Four distinct stem lines of cells 45,X/46,X,+G/46,XX and 47,XX,+G were found to be present in the lymphocytes of two females. In the third case, only three stem lines were found, the 45,X line being absent. The proportion of cell lines was different in each case. Possible mechanisms for the mosaicism were suggested.
报告了3例具有典型蒙古人种特征且很少或没有特纳综合征特征的病例。在两名女性的淋巴细胞中发现存在45,X/46,X,+G/46,XX和47,XX,+G这4种不同的细胞系。在第三例中,仅发现3种细胞系,不存在45,X细胞系。每种情况下细胞系的比例都不同。文中提出了嵌合体形成的可能机制。