Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome

Samira Spineli-Silva; Isabella L Monlleó; Têmis M Félix; Vera L Gil-da-Silva-Lopes; Társis P Vieira

doi:10.1177/10556656231174435

Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome

Cleft Palate Craniofac J. 2023 May 14:10556656231174435. doi: 10.1177/10556656231174435. Online ahead of print.

Authors

Samira Spineli-Silva¹, Isabella L Monlleó^{2

3}, Têmis M Félix⁴, Vera L Gil-da-Silva-Lopes¹, Társis P Vieira¹

Affiliations

¹ Laboratory of Human Cytogenetics and Cytogenomics, Department of Translational Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
² Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.
³ Clinical Genetics Service, University Hospital, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.
⁴ Medical Genetics Service, Clinical Hospital of Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.

PMID: 37183441
DOI: 10.1177/10556656231174435

Abstract

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.

Keywords: cat-eye syndrome; chromosomal microarray analysis.; craniofacial microsomia; oculoauriculovertebral spectrum.