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Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

✍ Scribed by Morava, Eva; Hermann, Robert; Czak�, M�rta; Solt�sz, Gyula; Kosztol�nyi, Gy�rgy

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 6 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000313)91:2<99::aid-ajmg3>3.0.co;2-c

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✦ Synopsis

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).

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