Article
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Sept 2024
Spineli-Silva Samira, Monlleó Isabella L, Félix Têmis M, Gil-da-Silva-Lopes Vera L, Vieira Társis P
Abstract excerpt
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...
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