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":null,"pages":null},"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\":null,\"pages\":null},\"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。

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

查看原文本刊更多论文

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

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks