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

{"title":"9p 六体/四体综合征嵌合患者的双侧脉络丛切除术","authors":"Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu","doi":"10.1038/s41439-024-00268-x","DOIUrl":null,"url":null,"abstract":"<p>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.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"45 1","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient\",\"authors\":\"Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu\",\"doi\":\"10.1038/s41439-024-00268-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>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.</p>\",\"PeriodicalId\":36861,\"journal\":{\"name\":\"Human Genome Variation\",\"volume\":\"45 1\",\"pages\":\"\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-02-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human Genome Variation\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1038/s41439-024-00268-x\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Genome Variation","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1038/s41439-024-00268-x","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

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。

摘要图片

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊