This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, which is the typical region triplicated in the CES, in all patients. The most frequent craniofacial features found in individuals with CFM and CES are preauricular tags and/or pits and mandibular hypoplasia. We reinforce that the candidate genes for CFM features, particularly ear malformation, preauricular tags/pits, and facial asymmetry, can be in the proximal region of the 22q11.2 region.
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GlaeserABSantosASDinizBLDeconteDRosaRFMZenPRG. Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review. Am J Med Genet Part A. 2020;182(11):2624-2631. doi:https://doi.org/10.1002/ajmg.a.61841
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GlaeserABDinizBLSantosAS, et al.A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings. Eur J Med Genet. 2021;64(11):104319. doi:https://doi.org/10.1016/j.ejmg.2021.104319.
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Spineli-SilvaSBispoLMGil-da-Silva-LopesVLVieiraTP. Distal deletion at 22q11.2 as differential diagnosis in craniofacial microsomia: Case report and literature review. Eur J Med Genet. 2018;61(5):262-268. doi:https://doi.org/10.1016/j.ejmg.2017.12.013.
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