Takada Rei, Tozawa Takenori, Yamanaka Takumi, Moroto Masaharu, Iehara Tomoko, Chiyonobu Tomohiro
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Department of Neurosurgery, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Hum Genome Var. 2024 Feb 26;11(1):9. doi: 10.1038/s41439-024-00268-x.
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.
先前的报告显示，9号染色体短臂（9p）增加与脉络丛增生（CPH）相关。此外，CPH可导致交通性脑积水；然而，尚无9p增加的CPH病例需要进行脉络丛切除术的报道。在此，我们描述了首例9p六体/四体嵌合患者因脑积水需要进行脉络丛切除术的病例。这一发现表明9p拷贝数与CPH严重程度相关。
