Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

Eva Morava, Robert Hermann, Márta Czakó, Gyula Soltész, György Kosztolányi

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)99-101
Number of pages3
JournalAmerican journal of medical genetics
Volume91
Issue number2
DOIs
StatePublished - Mar 16 2000

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Keywords

  • Isodicentric Y
  • Mosaic Ullrich-Turner syndrome
  • Virilization

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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