Iranian Journal of Pediatrics

Published by: Kowsar

Deletion 22 Syndrome with Wide Spectrum of Anomalies: A Case Report

Razieh Sangsari 1 , 2 , * and Maliheh Kadivar 1 , 2
Authors Information
1 Department of Pediatrics, Tehran University of Medical Sciences, Tehran, IR Iran
2 Division of Neonatology, Children’s Medical Center, Pediatrics Center of Excellence, Tehran, IR Iran
Article information
  • Iranian Journal of Pediatrics: April 2017, 27 (2); e6121
  • Published Online: January 16, 2017
  • Article Type: Letter
  • Received: May 1, 2016
  • Revised: September 25, 2016
  • Accepted: December 20, 2016
  • DOI: 10.5812/ijp.6121

To Cite: Sangsari R, Kadivar M. Deletion 22 Syndrome with Wide Spectrum of Anomalies: A Case Report, Iran J Pediatr. 2017 ; 27(2):e6121. doi: 10.5812/ijp.6121.

Copyright © 2017, Growth & Development Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
References
  • 1. Driscoll DA, Budarf ML, Emanuel BS. Antenatal diagnosis of DiGeorge syndrome. Lancet. 1991; 338(8779): 1390-1[PubMed]
  • 2. Digilio M, Marino B, Capolino R, Dallapiccola B. Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol. 2005; 7(2): 23-34[PubMed]
  • 3. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008; 14(1): 3-10[DOI][PubMed]
  • 4. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011; 90(1): 1-18[DOI][PubMed]
  • 5. Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet. 2003; 63(4): 308-13[PubMed]
  • 6. Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. 2001; 3(1): 45-8[PubMed]
  • 7. Oskarsdottir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005; 164(3): 146-53[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .
Readers' Comments