9p 六体/四体综合征嵌合患者的双侧脉络丛切除术

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2024-02-26 DOI:10.1038/s41439-024-00268-x

Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu

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摘要

以往的报告显示，9号染色体短臂（9p）增益与脉络丛增生（CPH）有关。此外，CPH 可导致交流性脑积水；但是，目前还没有 9p 增益的 CPH 病例需要进行脉络丛切除术。在这里，我们描述了第一例因脑积水而需要进行脉络丛切除术的 9p 六体/四体综合征嵌合患者。这一发现表明，9p拷贝数与CPH的严重程度相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

Previous reports have shown that a gain of the chromosome 9 short arm (9p) is associated with choroid plexus hyperplasia (CPH). Furthermore, CPH can lead to communicating hydrocephalus; however, no cases of CPH with 9p gain requiring choroid plexus resection have been reported. Here, we describe the first case in which a 9p hexasomy/tetrasomy mosaic patient required choroid plexus resection for hydrocephalus. This finding suggested that the 9p copy number is correlated with CPH severity.

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