Blagowidow N, Page D C, Huff D, Mennuti M T
Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia.
Am J Med Genet. 1989 Oct;34(2):159-62. doi: 10.1002/ajmg.1320340204.
Here we describe a fetus in whom a cystic hygroma was detected by ultrasound during the second trimester. Autopsy demonstrated a female fetus with manifestations of Ullrich-Turner syndrome, including gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation. Surprisingly, the karyotype was 46,XY, with no evidence of mosaicism for a 45,X cell line. Y-DNA hybridization studies demonstrated a deletion of the sex-determining segment of the short arm of the Y chromosome. This is the first report, in a fetus, of XY Ullrich-Turner syndrome due to a Y chromosome deletion.
