Y-chromosome markers in Turner syndrome

Screening of 130 patients

Á Sallai, J. Sólyom, M. Dobos, J. Szabó, Z. Halász, L. Ságodi, T. Niederland, A. Kozári, R. Bertalan, P. Ugocsai, G. Fekete

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Background: The presence of Y-chromosome material in patients with Turner syndrome (TS) is a risk factor for the development of gonadoblastoma. Cytogenetic analysis detects Y-chromosome mosaicism in about 5% of Turner patients. However, if Y-chromosome sequences are present in only a few cells, they may be missed by routine analysis. The use of molecular techniques to detect the presence of Y-chromosome fragments in such patients is becoming increasingly important. Aim: The objective of our study was to analyze cryptic Y-chromosome derivatives in Hungarian TS patient population by real-time PCR (RT-PCR). Subjects and metohds: Cytogenetic and RT-PCR methods were used to examine peripheral blood DNA of 130 Hungarian patients with TS for the presence of Y-chromosome. With RT-PCR, 4 regions throughout the Y-chromosome were analyzed. Results: Initial cytogenetic karyotyping assessing 10-50 metaphases revealed 3 patients with Y-chromosome positivity. RT-PCR revealed further 6 patients with Y-chromosome, who were initially considered as Y-negatives by standard kayotyping. The consecutive cytogenetic analysis of a large number (about 100) of metaphases (in 5 patients) and/or FISH (in 6 patients) however, also confirmed the presence of the Y-chromosome in these patients. Prophylactic gonadectomy was carried out in all 9 patients and 1 of them was diagnosed as having bilateral gonadoblastoma without clinical symptoms. Conclusions: We recommend a routine molecular screening for hidden Y-chromosome sequences in Turner patients, who are negative for Y-chromosome by conventional cytogenetic analysis, in order to calculate the future risk of developing gonadoblastoma. copy;2010, Editrice Kurtis.

Original languageEnglish
Pages (from-to)222-227
Number of pages6
JournalJournal of Endocrinological Investigation
Volume33
Issue number4
DOIs
Publication statusPublished - 2010

Fingerprint

Turner Syndrome
Y Chromosome
Genetic Markers
Gonadoblastoma
Real-Time Polymerase Chain Reaction
Cytogenetic Analysis
Metaphase
Cytogenetics
Karyotyping
Mosaicism

Keywords

  • Gonadoblastoma
  • Real-time PCR
  • Turner syndrome
  • Y-chromosome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology
  • Medicine(all)

Cite this

Y-chromosome markers in Turner syndrome : Screening of 130 patients. / Sallai, Á; Sólyom, J.; Dobos, M.; Szabó, J.; Halász, Z.; Ságodi, L.; Niederland, T.; Kozári, A.; Bertalan, R.; Ugocsai, P.; Fekete, G.

In: Journal of Endocrinological Investigation, Vol. 33, No. 4, 2010, p. 222-227.

Research output: Contribution to journalArticle

Sallai, Á, Sólyom, J, Dobos, M, Szabó, J, Halász, Z, Ságodi, L, Niederland, T, Kozári, A, Bertalan, R, Ugocsai, P & Fekete, G 2010, 'Y-chromosome markers in Turner syndrome: Screening of 130 patients', Journal of Endocrinological Investigation, vol. 33, no. 4, pp. 222-227. https://doi.org/10.3275/6442
Sallai, Á ; Sólyom, J. ; Dobos, M. ; Szabó, J. ; Halász, Z. ; Ságodi, L. ; Niederland, T. ; Kozári, A. ; Bertalan, R. ; Ugocsai, P. ; Fekete, G. / Y-chromosome markers in Turner syndrome : Screening of 130 patients. In: Journal of Endocrinological Investigation. 2010 ; Vol. 33, No. 4. pp. 222-227.
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AU - Halász, Z.

AU - Ságodi, L.

AU - Niederland, T.

AU - Kozári, A.

AU - Bertalan, R.

AU - Ugocsai, P.

AU - Fekete, G.

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