Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.
Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male.
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DOI：
10.1186/1755-8166-7-14
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发表时间：
2014-02-21
影响因子：
1.3
通讯作者：
Kurpisz M
中科院分区：
文献类型：
--
作者：
Wiland E;Olszewska M;Georgiadis A;Huleyuk N;Panasiuk B;Zastavna D;Yatsenko SA;Jedrzejczak P;Midro AT;Yatsenko AN;Kurpisz M
全臂t（9;13）（p11;p12）易位是罕见的，只描述了几次;所有以前报道的病例都是家族性的。我们报告一位男性不育携带者，经GTG-、C-和NOR-显带核型分析，发现全臂相互易位dic（9;13）（p11.2;p12），其精液中无成熟精子细胞。FISH和全基因组400 K CGH微阵列（Agilent）分析证实了平衡的染色体互补，并进一步将异常表征为双着丝粒染色体（9;13）：dic（9;13）（pter→p11.2：：p12→qter），neo（9）（pter→p12→neo→p11.2）。对患者射精细胞的分析确定了处于精子发生不同阶段的未成熟生殖细胞，但没有成熟精子。大多数（82.5%）的生殖细胞被认为是精母细胞在第一阶段，细胞核最常见的粗线期I（41.8%）。我们还进行了FISH分析，并记录了我们的患者外周血白细胞中染色体15，18，X和Y的非整倍体率增加。为了研究白细胞非整倍体的风险，我们另外纳入了9例核型正常的非梗阻性无精子症患者。我们认为dic（9;13）（p11.2;p12）易位患者中观察到的无精子症很可能是I期前期XY二价体和四价体形成之间的关联比例很高（90%）的结果。
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. 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. 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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