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首页> 外文期刊>Molecular cytogenetics >Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male
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Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male

机译：不育男性从新易位dic（9; 13）（p11.2; p12）的细胞遗传学和分子分析

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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.
机译：背景技术整个臂的t（9; 13）（p11; p12）易位很少见，仅被描述过几次。先前报告的所有病例均为家族性。结果我们在这里展示了一种不育的男性携带者，该携带者的整个臂相互易位dic（9; 13）（p11.2; p12）由GTG-，C-和NOR带状核型揭示，其射精中没有成熟的精子细胞。 FISH和全基因组400 K CGH微阵列芯片（Agilent）分析显示出平衡的染色体补体，并进一步将异常定性为双中心染色体（9; 13）：dic（9; 13）（pter→p11.2 :: p12→qter ），neo（9）（pter→p12→neo→p11.2）。通过对患者射精细胞的分析，可以确定在精子发生不同阶段的未成熟生殖细胞，但没有成熟的精子。在阶段I中，大多数（82.5％）的生殖细胞被识别为精母细胞，而在粗线I中细胞核最常见（41.8％）。我们还进行了FISH分析，并记录了患者外周血白细胞中15、18，X和Y染色体的非整倍性比率增加。为了研究白细胞的非整倍性风险，我们还纳入了9例具有正常核型的非阻塞性无精子症患者。结论我们认为在dic（9; 13）（p11.2; p12）易位患者中观察到的无精子症很可能是前期XY二价与四价形成之间缔合比例非常高的结果（90％）一世。

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