Isodicentric Y chromosome in an Ullrich-Turner patient without virilization
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 revi...
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Veröffentlicht in: | American journal of medical genetics 2000-03, Vol.91 (2), p.99-101 |
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Sprache: | eng |
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Zusammenfassung: | 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). Am. J. Med. Genet. 91:99–101, 2000. © 2000 Wiley‐Liss, Inc. |
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ISSN: | 0148-7299 1096-8628 |
DOI: | 10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C |