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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.
Takada, Rei; Tozawa, Takenori; Yamanaka, Takumi; Moroto, Masaharu; Iehara, Tomoko; Chiyonobu, Tomohiro.
Afiliação
  • Takada R; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Tozawa T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Yamanaka T; Department of Neurosurgery, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Moroto M; Department of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan.
  • Iehara T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Chiyonobu T; Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. chiyono@koto.kpu-m.ac.jp.
Hum Genome Var ; 11(1): 9, 2024 Feb 26.
Article em En | MEDLINE | ID: mdl-38409073
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.

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article