title: [Identification of Y-chromosome by Molecular Analysis in Patients with Turner Syndrome.].
abstract: BACKGROUND
  It is known that the Y chromosome or Y-specific sequence is present in about 6% of Turner syndrome (TS) patients and that it predisposes them to gonadoblastoma formation with an estimated risk of 15-25%. In this study, we performed a polymerase chain reaction (PCR) in 32 patients with TS to detect Y-specific sequence. The results were compared with those obtained by the fluorescence in situ hybridaization (FISH) method.
  
  
  METHODS
  Cytogenetic analysis was performed by phytohaemagglutinin (PHA)-stimulated peripheral lymphocyte cultures, using G-banding. DNA was extracted from peripheral blood for PCR. Seven different sets of oligonucleotide primers, sex determining region Y (SRY), zinc finger gene on the Y chromosome (ZFY), testis specific protein Y (TSPY), DYZ3, DYF49S1, RNA binding motif protein (RBM), and DYZ1, spanning on centromeres and short and long arms of the Y chromosome were used for PCR. FISH was carried out using X and Y chromosome enumeration probe for Xp11.1-q11.1 (DXZ1 locus) and Yp11.1-q11.1 (DYZ3 locus), respectively.
  
  
  RESULTS
  Among 32 patients with TS, four (12.5%) were positive for Y specific sequence by PCR. Of these, two patients were detected previously by a cytogenetic analysis: 45,X/47,XYY and 45,X/46,XY. Only one Y specific sequence, DYZ3, was detected by PCR in the other two patients without cytogenetically obvious Y chromosome. Y signal was not detected by FISH for the last two patients.
  
  
  CONCLUSIONS
  It may be reasonable to consider using a PCR method to screen for Y-specific sequences in all patients with TS. Even though we did not demonstrate Y-signal by FISH in patients with PCR positive and cytogenetically no obvious Y chromosome, FISH may be another useful method in TS patient, and futher investigation is nessessary.
authors.affiliation: Department of Laboratory Medicine, Busan Paik Hospital, College of Medicine, Inje University, Busan, Korea. pk7146@hanmail.net.
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Kim
authors.forename: Jeong Hwan
authors.initials: JH
authors.lastname: Shin
authors.forename: Woo Yeong
authors.initials: WY
authors.lastname: Jung
authors.forename: Jeong Nyeo
authors.initials: JN
authors.lastname: Lee