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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient
Rei Takada1, Takenori Tozawa1, Takumi Yamanaka2
1Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Human Genome Variation
|February 26, 2024
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.

