title: Normal karyotype in cultured chorionic villus cells, but mosaicism in amniotic and fetal cells.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, H.O. Wildenskovvej 10, Børkop, Denmark.
authors.forename: N H
authors.initials: NH
authors.lastname: Birkebaek
authors.forename: E E
authors.initials: EE
authors.lastname: Andreasen
authors.forename: M
authors.initials: M
authors.lastname: Ramsing
authors.forename: U V
authors.initials: UV
authors.lastname: Henriques
authors.forename: G
authors.initials: G
authors.lastname: Bruun-Petersen
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology*; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000648:ultrastructure*; D005188:False Negative Reactions; D005260:Female; D005333:Fetus; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy