Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient
Abstract 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 des...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-02-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00268-x |
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| _version_ | 1832594904233017344 |
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| author | Rei Takada Takenori Tozawa Takumi Yamanaka Masaharu Moroto Tomoko Iehara Tomohiro Chiyonobu |
| author_facet | Rei Takada Takenori Tozawa Takumi Yamanaka Masaharu Moroto Tomoko Iehara Tomohiro Chiyonobu |
| author_sort | Rei Takada |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-648d961b6a534d6497ddff2b294b1010 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-648d961b6a534d6497ddff2b294b10102025-01-19T12:15:49ZengNature Publishing GroupHuman Genome Variation2054-345X2024-02-011111410.1038/s41439-024-00268-xBilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patientRei Takada0Takenori Tozawa1Takumi Yamanaka2Masaharu Moroto3Tomoko Iehara4Tomohiro Chiyonobu5Department of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Neurosurgery, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Fukuchiyama City HospitalDepartment of Pediatrics, Kyoto Prefectural University of MedicineDepartment of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of MedicineAbstract 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.https://doi.org/10.1038/s41439-024-00268-x |
| spellingShingle | Rei Takada Takenori Tozawa Takumi Yamanaka Masaharu Moroto Tomoko Iehara Tomohiro Chiyonobu Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient Human Genome Variation |
| title | Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient |
| title_full | Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient |
| title_fullStr | Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient |
| title_full_unstemmed | Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient |
| title_short | Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient |
| title_sort | bilateral choroid plexus resection in a 9p hexasomy tetrasomy mosaic patient |
| url | https://doi.org/10.1038/s41439-024-00268-x |
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