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. 2021 Dec 23;13(1):27. doi: 10.3390/genes13010027

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© 2021 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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(P90) Chromosomal copy number variations analysis using off-target reads led to precision medicine (A) 8-year-old female showed strabismus and hirsutism was noted in philtrum area. (B) Spectral-domain optical coherence tomography showed optic nerve atrophy in the right eye. (C) Chromosomal 12p12 deletion was suspected by bioinformatics analysis using off-target reads (arrow). Array comparative genomic hybridization confirmed 12p.12.2p12.1 deletion. Optic nerve atrophy was thought to be related to a whole deletion of SOX5 gene. Because a whole deletion of the ABCC9 gene located nearby to the SOX5 gene was detected, monitoring of regular cardiac function was recommended.