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 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).
Morava
E
E
Department of Medical Genetics and Child Development, University Medical School of Pecs, Pecs, Hungary. emorava@apacs.pote.hu
Hermann
R
R
Czakó
M
M
Soltész
G
G
Kosztolányi
G
G
D000293:Adolescent; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D009030:Mosaicism; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014424:Turner Syndrome / Q000235:genetics*; D014770:Virilism / Q000235:genetics; D014998:Y Chromosome
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors