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Identification of Y-Chromosome Sequences in Turner Syndrome

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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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Contributions

RLSG and MASB: Design of the study, collection, analysis and interpretation of data and revision of the manuscript; ABTM: Analysis and interpretation of data, literature review, drafting and revision of the manuscript; TAS and LDC: Collection, PCR analysis and interpretation of data. MASB will act as guarantor for this paper.

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Authors and Affiliations

  1. Disciplina de Genética, ICBN, Universidade Federal do Triângulo Mineiro/UFTM, Uberaba, MG, Brazil

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

  2. Instituto de Ciências Biológicas e Naturais/ICBN, Disciplina de Genética, Universidade Federal do Triângulo Mineiro/UFTM, Praça Manoel Terra, 330, Uberaba, MG, CEP 38015-050, Brazil

    Marly Aparecida Spadotto Balarin

Authors
  1. Roseane Lopes da Silva-Grecco
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  2. Alessandra Bernadete Trovó-Marqui
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  3. Tiago Alves de Sousa
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  4. Lilian Da Croce
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  5. Marly Aparecida Spadotto Balarin
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Correspondence to Marly Aparecida Spadotto Balarin.

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da Silva-Grecco, R.L., Trovó-Marqui, A.B., de Sousa, T.A. et al. Identification of Y-Chromosome Sequences in Turner Syndrome. Indian J Pediatr 83, 405–409 (2016). https://doi.org/10.1007/s12098-015-1929-6

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  • DOI: https://doi.org/10.1007/s12098-015-1929-6

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