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Wiland E, Olszewska M, Georgiadis A, et al. Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male. Mol Cytogenet. 2014;7(1):14doi: 10.1186/1755-8166-7-14.
Wiland, E., Olszewska, M., Georgiadis, A., Huleyuk, N., Panasiuk, B., Zastavna, D., Yatsenko, S. A., Jedrzejczak, P., Midro, A. T., Yatsenko, A. N., & Kurpisz, M. (2014). Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male. Molecular cytogenetics, 7(1), 14. https://doi.org/10.1186/1755-8166-7-14
Wiland, Ewa, et al. "Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male." Molecular cytogenetics vol. 7,1 (2014): 14. doi: https://doi.org/10.1186/1755-8166-7-14
Wiland E, Olszewska M, Georgiadis A, Huleyuk N, Panasiuk B, Zastavna D, Yatsenko SA, Jedrzejczak P, Midro AT, Yatsenko AN, Kurpisz M. Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male. Mol Cytogenet. 2014 Feb 21;7(1):14. doi: 10.1186/1755-8166-7-14. PMID: 24559467; PMCID: PMC3944724.
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Mol Cytogenet. 2014 Feb 21;7(1):14. doi: 10.1186/1755-8166-7-14.

Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.

Molecular cytogenetics

Ewa Wiland, Marta Olszewska, Andrew Georgiadis, Nataliya Huleyuk, Barbara Panasiuk, Danuta Zastavna, Svetlana A Yatsenko, Piotr Jedrzejczak, Alina T Midro, Alexander N Yatsenko, Maciej Kurpisz

Affiliations

  1. Institute of Human Genetics Polish Academy of Sciences, Department of Reproductive Biology and Stem Cells, Strzeszynska 32, Poznan 60-479, Poland. [email protected].

PMID: 24559467 PMCID: PMC3944724 DOI: 10.1186/1755-8166-7-14

Abstract

BACKGROUND: Whole arm t(9;13)(p11;p12) translocations are rare and have been described only a few times; all of the previously reported cases were familial.

RESULTS: We present here an infertile male carrier with a whole-arm reciprocal translocation dic(9;13)(p11.2;p12) revealed by GTG-, C-, and NOR-banding karyotypes with no mature sperm cells in his ejaculate. FISH and genome-wide 400 K CGH microarray (Agilent) analyses demonstrated a balanced chromosome complement and further characterised the abnormality as a dicentric chromosome (9;13): dic(9;13)(pter→p11.2::p12→qter),neo(9)(pter→p12→neo→p11.2). An analysis of the patient's ejaculated cells identified immature germ cells at different phases of spermatogenesis but no mature spermatozoa. Most (82.5%) of the germ cells were recognised as spermatocytes at stage I, and the cell nuclei were most frequently found in pachytene I (41.8%). We have also undertaken FISH analysis and documented an increased rate of aneuploidy of chromosomes 15, 18, X and Y in the peripheral blood leukocytes of our patient. To study the aneuploidy risk in leukocytes, we have additionally included 9 patients with non-obstructive azoospermia with normal karyotypes.

CONCLUSIONS: We propose that the azoospermia observed in the patient with the dic(9;13)(p11.2;p12) translocation was most likely a consequence of a very high proportion (90%) of association between XY bivalents and quadrivalent formations in prophase I.

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