45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones.
Amniocyte clones from a mild-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.
D000328:Adult; D000649:Amniocentesis; D002999:Clone Cells; D005260:Female; D006059:Gonadal Dysgenesis / Q000175:diagnosis*; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012730:Sex Chromosomes