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首页> 外文期刊>BMC Medical Genomics >One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report
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One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report

机译：一个健康的活产前患者在具有脑瘫和青光眼的家庭中的隐秘平衡易位（9; 13）的遗传学检测：案例报告

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摘要

Cryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can be used to help carriers of balanced translocations give birth to healthy offspring; however, for carriers of cryptic balanced translocations, there is only one report about trying assisted reproduction using the PGT technique but with no pregnancy. A couple had 3 births out of 4 pregnancies, and all died very young, with two of them having both cerebral palsy and glaucoma. The husband with oligoasthenospermia was found to be a cryptic balanced translocation carrier for t (9,13) (p24.3, q31.3) with G-banding, FISH (fluorescence in-situ hybridization), and MicroSeq techniques; live birth of a healthy baby girl was achieved with PGT/NGS (next-generation sequencing) for the couple. Here, we report for the first time a successful live birth of a healthy baby through the PGT technique for a family in which the husband is a carrier of the cryptic balanced translocation t (9,13) (p24.3, q31.3), presumably causative for cerebral palsy and glaucoma. Our study showed that the PGT/NGS technique can effectively help families with a cryptic balanced translocation have healthy offspring.
机译：密码平衡易位常常通过常规细胞遗传学避免检测。预体遗传测试（PGT）技术可用于帮助平衡易位的载体产生健康的后代;然而，对于密码平衡易位的载体，只有一个关于尝试使用PGT技术进行辅助再现的报告，但没有怀孕。一对夫妇有4个孕妇出生，所有人都死于很年轻，其中两人都有两个脑瘫和青光眼。发现丈夫用寡碱孢子症是一种用于T（9,13）（P24.3，Q31.3）的隐秘平衡易位载体，具有G型粘结，鱼（原位杂交）和微鼠标技术;对于这对夫妇的PGT / NGS（下一代测序）实现了健康女婴的活诞生。在这里，我们第一次通过PGT技术成功地诞生了一个健康的婴儿，为丈夫是隐秘平衡易位T（9,13）的载体（P24.3，Q31.3）据推测，脑瘫和青光眼的致病性。我们的研究表明，PGT / NGS技术可以有效地帮助具有丰地平衡易位的家庭具有健康的后代。

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