title: Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA.
abstract: Only about half of all patients with Turner's syndrome are monosomy 45,X on karyotyping and there are grounds for supposing that cryptic mosaicism for at least part of the Y chromosome may be present in some patients. If so this would be clinically important because of the risk to patients of gonadal neoplasms and virilisation. We have used a very sensitive method to detect Y chromosomal segments in eighteen patients with Turner's syndrome, none of whom had evidence of Y chromosomal material by cytogenetic analysis. In DNA from peripheral blood lymphocytes and/or fibroblasts we looked for specific nucleotide sequences from the sex-determining region of the Y chromosome (SRY gene) and repetitive sequences located at the centromeric region (DYZ3). By polymerase chain amplification (PCR) one patient had a definite positive signal and two patients had faintly positive signals for the SRY gene. Southern blot analysis of PCR material with a SRY-specific probe confirmed that these patients were positive for SRY and revealed another three. No patient was positive for DYZ3, suggesting that only a small portion of Y was present. These results suggest that "pure" 45,X monosomy is less frequent than previously supposed. Long-term follow-up of patients with Y sequences is needed to determine their risk for subsequent gonadal neoplasms and virilisation.
authors.affiliation: Division of Immunogenetics, Children's Hospital of Pittsburgh, PA 15213-2583.
authors.forename: M
authors.initials: M
authors.lastname: Kocova
authors.forename: S F
authors.initials: SF
authors.lastname: Siegel
authors.forename: S L
authors.initials: SL
authors.lastname: Wenger
authors.forename: P A
authors.initials: PA
authors.lastname: Lee
authors.forename: M
authors.initials: M
authors.lastname: Trucco
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D004277:DNA, Single-Stranded / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
chemical_list: D004277:DNA, Single-Stranded; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors