Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype.
In the present report we describe a mid-trimester Turner fetus with cystic nuchal hygroma, hydrops fetalis and 90, XX karyotype. This observation suggests that the development of a typical Turner syndrome in humans is apparently caused by a specific autosome/X chromosome ratio (44:1 in 45, X patients or 88:2 in the present fetus) rather than by an X-chromosome monosomy.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000028:Abortion, Induced; D004487:Edema / Q000235:genetics; D005260:Female; D005333:Fetus; D007621:Karyotyping; D008202:Lymphangioma / Q000235:genetics; D011123:Polyploidy; D014424:Turner Syndrome / Q000235:genetics*