We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/ 46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y. derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). (C) 2000 Wiley-Liss, Inc.
|Number of pages||3|
|Journal||American journal of medical genetics|
|Publication status||Published - Mar 16 2000|
- Isodicentric Y
- Mosaic Ullrich-Turner syndrome
ASJC Scopus subject areas