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

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.

SUBMITTER: Dideum P

PROVIDER: S-EPMC7752388 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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

Dideum Patrick P Rohena Luis L Berg Janet J Percival Candace C

Clinical case reports 20201018 12

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. ...[more]

PMID: 33363922

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