Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

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

Research output: Contribution to journalArticle

16 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Virilism
Mosaicism
Y Chromosome
Turner Syndrome
Genitalia
Tissue Distribution
Karyotype
Genetic Markers
Lymphocytes

Keywords

  • Isodicentric Y
  • Mosaic Ullrich-Turner syndrome
  • Virilization

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. / Morava-Kozicz, Eva; Hermann, Robert; Czakó, Márta; Soltész, Gyula; Kosztolányi, György.

In: American Journal of Medical Genetics, Vol. 91, No. 2, 16.03.2000, p. 99-101.

Research output: Contribution to journalArticle

Morava-Kozicz, Eva ; Hermann, Robert ; Czakó, Márta ; Soltész, Gyula ; Kosztolányi, György. / Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. In: American Journal of Medical Genetics. 2000 ; Vol. 91, No. 2. pp. 99-101.
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