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首页> 外文期刊>Molecular cytogenetics >Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
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Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature

机译：无精子症和三体性18p综合征：偶然的关联吗？病人报告和文献复习

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Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been reported in the literature, making it difficult to define a potentially associated phenotype. However, the available evidence suggests that few clinical features are shared by these patients: only variable intellectual disability, variable facial dysmorphism and epilepsy are reported in a few patients. Although three inherited cases of trisomy 18p have already been reported, all were of maternal origin. We report on a patient carrying an isolated complete trisomy 18p translocated to the short arm of chromosome 14 and presenting with facial dysmorphism, mild intellectual disability and non-obstructive azoospermia. Chromosomal abnormalities are more frequent in infertile men with poor sperm quality than the general population. Both numerical and structural chromosomal aberrations have been already reported within the context of azoospermia. To our knowledge, this is the first patient with trisomy 18p to present a fertility impairment due to totally altered spermatogenesis and azoospermia. Although fertility disorders were not mentioned in the four previous reports of men with trisomy 18p, none of the latter had children. We suggest that azoospermia is a previously uncharacterized feature of trisomy 18p syndrome. We further hypothesize that two mechanisms could be responsible of the fertility impairment: a meiotic synapsis defect due to the additional 18p arm that blocks meiosis, and/or overexpression of a gene located on the 18p chromosome involved in the normal testicular development.
机译：18号染色体短臂的完整，孤立的三体性非常罕见。迄今为止，文献中仅报道了24p三体性18p病例，这使得很难定义潜在的相关表型。但是，现有证据表明这些患者很少具有临床特征：只有少数患者报告了智力残疾，面部畸形和癫痫发作。尽管已经报道了三例18p三体性遗传病例，但所有病例均来自母亲。我们报道了一名患者携带孤立的完整三体性18p易位到14号染色体的短臂，并表现出面部畸形，轻度智力障碍和无阻塞性无精症。与普通人群相比，精子质量差的不育男性的染色体异常更为常见。在无精子症的背景下，已经报道了数值和结构上的染色体畸变。据我们所知，这是第一位因精子发生和无精子完全改变而导致生育能力受损的18p三体性患者。尽管先前的四篇有关18p三体性的男性均未提及生育障碍，但后者均未育有孩子。我们建议无精症是18三体综合征的先前特征。我们进一步假设，这两种机制可能是导致生育能力受损的原因：一种是由于额外的18p臂阻断了减数分裂而导致的减数分裂突触缺陷，和/或是位于正常睾丸发育中的18p染色体上的一个基因的过表达。

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