Birkebaek N H, Andreasen E E, Ramsing M, Henriques U V, Bruun-Petersen G
Department of Clinical Genetics, H.O. Wildenskovvej 10, Børkop, Denmark.
Prenat Diagn. 1992 Nov;12(11):951-3. doi: 10.1002/pd.1970121115.
A case with a normal male karyotype in cultured chorionic villus cells, but 46,XY/45,X/46,X,i(Yq) mosaicism in amniotic and fetal tissue is reported. The fetus was a phenotypic male. Pathological examination revealed discrete features, which might indicate a syndrome, and histological examination showed large, bright cells in the tubules of the testes. Possible explanations for discordance between the karyotype of embryonic and extraembryonic tissue are discussed.
报道了一例培养的绒毛膜绒毛细胞中男性核型正常，但羊膜和胎儿组织中存在46,XY/45,X/46,X,i(Yq)嵌合体的病例。胎儿为表型男性。病理检查发现了一些离散特征，可能提示一种综合征，组织学检查显示睾丸小管中有大的亮细胞。文中讨论了胚胎组织和胚外组织核型不一致的可能原因。
