Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome

✍ Scribed by Blagowidow, Natalie ;Page, David C. ;Huff, Dale ;Mennuti, Michael T.

• Publisher: John Wiley and Sons
• Year: 1989
• Tongue: English
• Weight: 458 KB
• Volume: 34
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320340204

✦ Synopsis

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 sexdetermining 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.