Y-chromosome markers in Turner syndrome: Screening of 130 patients.

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 METHODS:

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.

• Authors: A Sallai, J Sólyom, M Dobos, J Szabó, Z Halász, L Ságodi, T Niederland, A Kozári, R Bertalan, P Ugocsai, G Fekete
• Journal: Journal of endocrinological investigation (J Endocrinol Invest) Vol. 33 Issue 4 Pg. 222-7 (Apr 2010) ISSN: 1720-8386 [Electronic] Italy
• PMID: 19625757 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers

Topics

• Adolescent
• Child
• Child, Preschool
• Chromosomes, Human, Y (genetics)
• Cytogenetic Analysis
• Female
• Genetic Markers (genetics)
• Gonadoblastoma (genetics)
• Humans
• Hungary
• Infant
• Infant, Newborn
• Karyotyping
• Reverse Transcriptase Polymerase Chain Reaction
• Risk Factors
• Turner Syndrome (genetics)
• Young Adult