文献报道45,X/46,XY嵌合体临床表现多种多样,以男性表型最多,或性别难辨,也可以是女性表型伴有或无Turner特征,身高正常或矮小。作者自1962年起18年来,2900份染色体分析有10例为45,X/46,XY嵌合体,其中8例作了剖腹摘除性腺,认真辨别切片是睾丸、卵巢、中肾管或苗勒氏管。大致分为四 Reported in the literature 45, X / 46, XY chimera clinical manifestations of a variety of male phenotypic most, or gender is difficult to distinguish, can also be female phenotype with or without Turner features, normal or short stature. In the 18 years since 1962, there were 10 out of 2,900 chromosomes analyzed as 45, X / 46, XY chimeras, of which 8 had a caecum removed by cesarean section and carefully identified the testes, ovaries, mesoreducers or Müller tube. Roughly divided into four