Cytogenetic diagnostic of chromosome abnormalities involving Y chromosome

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

Abstract

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

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References

Unique 45,X/46,XY including Y chromosome rearrangements / Rare Chromosome Disorder Support Group [Electronic recourse] - Accessed mode: http://www.rarechromo.org/information/Chromosome_Y/45X%2046XY%20including%20Y%20chromosome%20rearrangements%20FTNW.pdf

Angelo V. Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man / V. Bertini, E. Rapalini, F. Baldinotti, D. Di Martino, P. Simi // Fertility and Sterility. – 2004. – V. 81. – № 5. – P. 1388-1390

Ying Hui Lin. Isochromosome of Yp in a man with Sertoli-cell-only Syndrome / Ying Hui Lin, Louise Chuang, Yung Ming Lin, Ying Hung Lin, Yeng Ni Teng, Pao Lin Kuo // Fertility and Sterility – 2005. – V. 83. – №3 – P. 764-766

Vorsanova S. Medical cytogenetics / S. Vorsanova, Y. Yurov, V. Chernyshov // Medpraktika. - 2006. - P. 300

Kuznetsova T.  Medical Laboratory Technology: A handbook. Medical laboratory technology / T. Kuznetsov, Y. Loginova, O. Chiryaeva, A. Pendina, V. Baranov // Intermedika - 1998 - V.2. - P.550-571

ISCN International System for Human Cytogenetic Nomenclature. – 2013

Elisabeth E. Centromere activity in dicentric small supernumerary marker chromosomes / Y.Kinya, B. Ahmed, A.Weise, M. Manvelyan, T. Liehr // Chromosome Res – 2010. – V.18 – P. 555-562

Wyandt H. E. Human Chromosome Variation: Heteromorphism and polymorphism / V. S. Tonk // Springer Netherlands – 2012. – P.7-16

Paris Conference Supplement. Standardization in human genetics. Birth defects / The National Foundation, New York – 1975. – V. 11 – №9

 Howell W.M. Differential staining of the satellite regions of human acrocentric chromosomes / T.E. Denton, J.R. Diamond // Experentia – 1975. – V.31– P. 260-262

 Davood M. O. Cytogenetic and molecular genetic analysis of dicentric Y chromosome and its relation to male azoospermia / J. H. Karimzad // Iranian Journal of Reproductive Medicine – 2008. – V.6 – №2 – P. 57-64

 Sheth F. Characterization of sSMC by FISH and molecular techniques / A. Joris, E. Ewers, N. Kosyakova, A. Weise // European Journal of Medical Genetics – 2011.– V.54 – №3 – P. 247