Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.

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.

Citation

Samira Spineli-Silva, Isabella L Monlleó, Têmis M Félix, Vera L Gil-da-Silva-Lopes, Társis P Vieira. Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 2024 Sep;61(9):1578-1585

Mesh Tags

PMID: 37183441

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