Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA

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.