A New 12q21 Deletion Syndrome: A Case Report and Literature Review

Alessandra Di Nora; Greta De Costa; Alessia Di Mari; Marco Montemagno; Vito Pavone; Piero Pavone

doi:10.1055/s-0042-1748171

Global Medical Genetics, Table of Contents

CC BY 4.0 · Glob Med Genet 2022; 09(03): 214-218
DOI: 10.1055/s-0042-1748171

Case Report

A New 12q21 Deletion Syndrome: A Case Report and Literature Review

Authors

Alessandra Di Nora

¹Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Greta De Costa

¹Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Alessia Di Mari

²Department of Radiology, University of Catania, Catania, Italy
Marco Montemagno

³Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-San Marco, University of Catania, Catania, Italy
Vito Pavone

³Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-San Marco, University of Catania, Catania, Italy
Piero Pavone

⁴Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, Hospital “Policlinico G. Rodolico,” Catania, Italy

Abstract

Diagnosis in children with physical and intellective anomalies is very challenging because of the wide spectrum of causes. Array-based comparative genomic hybridization (CGH) has acquired an important role in pediatric diagnostic work up. Interstitial deletion of the long arm of chromosome 12 are rare. To date, deletions including the 12q21 region were reported in only 13 patients. The main features are development delay, eyes and central nervous system anomalies, and heart and kidney defects. We describe a 3-year-old boy with a de novo 15 Mb deletion at 12q21.1q21.32, never reported in the last cases. By screening the critical region and reviewing the literature, we identified SYT1, PPP1R12A, and CEP290 such as pathogenetic genes.

Keywords

12q21 deletion - pediatry - genetic

Full Text

References

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