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

Wiland, E and Olszewska, M and Georgiadis, A and Huleyuk, N and Panasiuk, B and Zastavna, D and Yatsenko, SA and Jedrzejczak, P and Midro, AT and Yatsenko, AN and 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).

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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. © 2014 Wiland et al.; licensee BioMed Central Ltd.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Wiland, E
Olszewska, M
Georgiadis, A
Huleyuk, N
Panasiuk, B
Zastavna, D
Yatsenko, SAsay17@pitt.eduSAY17
Jedrzejczak, P
Midro, AT
Yatsenko, ANany23@pitt.eduANY23
Kurpisz, M
Date: 21 February 2014
Date Type: Publication
Journal or Publication Title: Molecular Cytogenetics
Volume: 7
Number: 1
DOI or Unique Handle: 10.1186/1755-8166-7-14
Schools and Programs: School of Medicine > Obstetrics, Gynecology, and Reproductive Sciences
Refereed: Yes
Date Deposited: 02 Dec 2016 20:35
Last Modified: 04 Feb 2019 19:55
URI: http://d-scholarship.pitt.edu/id/eprint/29592

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