title: Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia.
authors.forename: N
authors.initials: N
authors.lastname: Blagowidow
authors.forename: D C
authors.initials: DC
authors.lastname: Page
authors.forename: D
authors.initials: D
authors.lastname: Huff
authors.forename: M T
authors.initials: MT
authors.lastname: Mennuti
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005260:Female; D005333:Fetus; D006801:Humans; D007621:Karyotyping; D008202:Lymphangioma / Q000209:etiology*; D009634:Noonan Syndrome / Q000235:genetics*; D011247:Pregnancy; D012732:Sex Determination Analysis; D014998:Y Chromosome
chemical_list: D004247:DNA