Case report: Novel phenotype in central 22q11.2 deletion syndrome

oleh: Patrick Dideum, Luis Rohena, Janet Berg, Candace Percival

Format: Article
Diterbitkan: Wiley 2020-12-01

Deskripsi

Abstract Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.