title: PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: clinical implications and limitations.
abstract: Cytogenetic analysis of patients with Ullrich-Turner syndrome (UTS) may fail to detect low levels of Y chromosome mosaicism or Y-derived marker chromosomes. More sensitive polymerase chain reaction (PCR)-based tests have been developed; however, applicability of these data to prognosis of virilization and gonadoblastoma development has not been investigated adequately. We used a multiplex PCR-based method to detect two Y-specific sequences, SRY and AMGLY. Thirteen patients with UTS without cytogenetically detected Y chromosomes were studied. Y-specific sequences were detected in 5 patients by multiplex PCR. A cryptic translocation involving the Y chromosome was found in one patient with severe virilization of external genitalia and a male phenotype. Y chromosomal mosaicism was detected in peripheral blood and in both gonads of one patient, and only in the left gonad of another patient. Existence of a Y-derived marker was demonstrated in 2 patients, one of whom had no testicular tissue or virilization. Consistent with previous reports, we conclude that PCR is more sensitive than classical cytogenetic analysis and detects patients with Y-specific sequences in blood cells. However, the absence of Y-specific material in blood is not a sufficient reason to reject surgical treatment in case of virilization.
authors.affiliation: Department of Medical Genetics, Russian Medical Academy of Postgraduate Education, Moscow.
authors.forename: G R
authors.initials: GR
authors.lastname: Osipova
authors.forename: M E
authors.initials: ME
authors.lastname: Karmanov
authors.forename: S I
authors.initials: SI
authors.lastname: Kozlova
authors.forename: O V
authors.initials: OV
authors.lastname: Evgrafov
mesh_terms: D000293:Adolescent; D053523:Amelogenin; D002648:Child; D004247:DNA / Q000097:blood; D004268:DNA-Binding Proteins / Q000737:chemistry* / Q000235:genetics; D003746:Dental Enamel Proteins / Q000235:genetics; D005260:Female; D018238:Gonadoblastoma / Q000209:etiology / Q000235:genetics; D006066:Gonads; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009687:Nuclear Proteins; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D014770:Virilism / Q000209:etiology / Q000235:genetics; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D053523:Amelogenin; D004268:DNA-Binding Proteins; D003746:Dental Enamel Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA