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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

Alessandra Di Nora
1   Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Greta De Costa
1   Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Alessia Di Mari
2   Department of Radiology, University of Catania, Catania, Italy
,
Marco Montemagno
3   Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-San Marco, University of Catania, Catania, Italy
,
Vito Pavone
3   Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-San Marco, University of Catania, Catania, Italy
,
Piero Pavone
4   Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, Hospital “Policlinico G. Rodolico,” Catania, Italy
› Author Affiliations Funding None.
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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

Ethical Approval

This study was conformed to the ethical guidelines of Declaration of Helsinki. Written informed consent was obtained from the patient for publication of this case report and any accompanying images.


Authors' Contributions

Each author committed a substantial contribution to the conception or design of the work and to revise it critically for important intellectual content. In addition, each author approved the final version to be published. Conversely, each author agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.




Publication History

Article published online:
21 July 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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