Screening of patients with Turner syndrome for 'hidden' Y-mosaicism

Ingrid Vlasak, Engelbert Plöchl, Gabriela Kronberger, Eva Bergendi, Olaf Rittinger, Monika Hagemann, Klaus Schmitt, Peter Blümel, Josef Glatzl, G. Fekete, Magda Kadrnka-Lovrencic, Martin Borkenstein, Gabriele Häusler, Herwig Frisch

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

The presence of Y-chromosomal sequences in the cells of patients with Turner-Syndrome (TS) is a risk factor for the development of gonadal tumors. Therefore and since demonstration of Y-material usually results in prophylactic gonadectomy optimal sensitivity and specifity of the diagnosis have to be attempted. We wanted to evaluate the diagnostic potential of cytogenetic investigations as routinely employed in TS. In the most comprehensive study published so far we screened 208 TS patients for the presence of Y-chromosomal sequences by polymerase chain reaction (PCR) specific for eight different loci along the Y-chromosome. Six patients (3%) without cytogenetic evidence of Y-chromosome were found to be Y-positive. Among 12 cases with marker chromosomes two more Y-chromosomal fragments were identified. Thus, PCR-screening for Y-species sequences was shown to be a valuable tool in the clinical management of Turner patients.

Original languageEnglish
Pages (from-to)30-34
Number of pages5
JournalKlinische Padiatrie
Volume211
Issue number1
Publication statusPublished - 1999

Fingerprint

Turner Syndrome
Mosaicism
Y Chromosome
Cytogenetics
Polymerase Chain Reaction
Genetic Markers
Neoplasms

Keywords

  • Gonadoblastoma
  • Turner-Syndrome
  • Y-chromosome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Vlasak, I., Plöchl, E., Kronberger, G., Bergendi, E., Rittinger, O., Hagemann, M., ... Frisch, H. (1999). Screening of patients with Turner syndrome for 'hidden' Y-mosaicism. Klinische Padiatrie, 211(1), 30-34.

Screening of patients with Turner syndrome for 'hidden' Y-mosaicism. / Vlasak, Ingrid; Plöchl, Engelbert; Kronberger, Gabriela; Bergendi, Eva; Rittinger, Olaf; Hagemann, Monika; Schmitt, Klaus; Blümel, Peter; Glatzl, Josef; Fekete, G.; Kadrnka-Lovrencic, Magda; Borkenstein, Martin; Häusler, Gabriele; Frisch, Herwig.

In: Klinische Padiatrie, Vol. 211, No. 1, 1999, p. 30-34.

Research output: Contribution to journalArticle

Vlasak, I, Plöchl, E, Kronberger, G, Bergendi, E, Rittinger, O, Hagemann, M, Schmitt, K, Blümel, P, Glatzl, J, Fekete, G, Kadrnka-Lovrencic, M, Borkenstein, M, Häusler, G & Frisch, H 1999, 'Screening of patients with Turner syndrome for 'hidden' Y-mosaicism', Klinische Padiatrie, vol. 211, no. 1, pp. 30-34.
Vlasak I, Plöchl E, Kronberger G, Bergendi E, Rittinger O, Hagemann M et al. Screening of patients with Turner syndrome for 'hidden' Y-mosaicism. Klinische Padiatrie. 1999;211(1):30-34.
Vlasak, Ingrid ; Plöchl, Engelbert ; Kronberger, Gabriela ; Bergendi, Eva ; Rittinger, Olaf ; Hagemann, Monika ; Schmitt, Klaus ; Blümel, Peter ; Glatzl, Josef ; Fekete, G. ; Kadrnka-Lovrencic, Magda ; Borkenstein, Martin ; Häusler, Gabriele ; Frisch, Herwig. / Screening of patients with Turner syndrome for 'hidden' Y-mosaicism. In: Klinische Padiatrie. 1999 ; Vol. 211, No. 1. pp. 30-34.
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