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04.12.2015 | Original Article

Identification of Y-Chromosome Sequences in Turner Syndrome

verfasst von: Roseane Lopes da Silva-Grecco, Alessandra Bernadete Trovó-Marqui, Tiago Alves de Sousa, Lilian Da Croce, Marly Aparecida Spadotto Balarin

Erschienen in: Indian Journal of Pediatrics | Ausgabe 5/2016

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Abstract

Objectives

To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome.

Methods

The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction.

Results

The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis.

Conclusion

The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.

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Titel: Identification of Y-Chromosome Sequences in Turner Syndrome
verfasst von: Roseane Lopes da Silva-Grecco
Alessandra Bernadete Trovó-Marqui
Tiago Alves de Sousa
Lilian Da Croce
Marly Aparecida Spadotto Balarin
Publikationsdatum: 04.12.2015
Verlag: Springer India
Erschienen in: Indian Journal of Pediatrics / Ausgabe 5/2016
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-015-1929-6

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Identification of Y-Chromosome Sequences in Turner Syndrome