Case report: Novel phenotype in central 22q11.2 deletion syndrome. Issue 12 (18th October 2020)

• Record Type: Journal Article
• Authors: Dideum, Patrick; Rohena, Luis; Berg, Janet; Percival, Candace
• Is Part Of: Clinical case reports. Volume 8:Issue 12(2020)
• Page Start: 3296
• Page End: 3301
• Publication Date: 2020-10-18
• Subjects: 22q11.2 deletion -- central 22q11 deletion -- distal 22q11 deletion -- failure to thrive -- LCR22 -- microdeletion; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2870
• Languages: English
• ISSNs: 2050-0904

Abstract

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. 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.