Cytogenetic diagnostic of chromosome abnormalities involving Y chromosome

L. V. Tavokina, A. O. Brovko, O. V. Baronova, O. P. Moskalenko, N. G. Gorovenko


Introduction: Determination of the Y chromosome aberrations type has a great diagnostic and prognostic meaning. Cytogenetic and molecular cytogenetic diagnostics of Y chromosome abnormalities has several features in contrast to the autosomes. Modern cytogenetics can effectively identify not only quantitative abnormalities of Y chromosome, but also various structural aberrations, including the deletions of both arms, ring chromosomes, isochromosomes and pseudoisochromosomes derived from short or long arm of Y chromosome.However, different methods of cytogenetic and molecular cytogenetic diagnostics have a different informative value.

Purpose : The aim of present study was to analyze the cytogenetic and molecular cytogenetic diagnostics results for patients with changes in Y chromosome structure, and to evaluate and compare the used methods efficiency.

Methods: karyotyping was done according to the standard methods. GTG, CBG, QFQ and NOR-Ag methods of differential staining were used. FISH was performed according to the manufacturer instructions for CEP, LSI and WCP DNA-probes. 

Results: 135 of 3729 patients were taken for further diagnosis. 90,3% of them had variation in Yq-arm length. Structural Y chromosome changes were founded in 9.7%.  QFQ staining showed 100% efficiency. The deletions in Y chromosome were clearly detected by telomere DNA-probes. Marker chromosome identification was successful by consistent application of WCP probes, CBG banding and CEP probes. The structure of marker chromosome defined using LSI probes and NOR-Ag staining.

Originality:our experience shows that  using simple cytogenetic diagnostic tools can define great part of Y chromosome pathology, without baseless application of complex and expensive methods. 

Conclusion: Prudent use of the available diagnostic methods can simplify and speed up the diagnostic process


Human Chromosome Variation


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