22q11 Deletion Syndrome (Velo-Cardio-Facial syndrome), report of the first cases in Costa Rica with cytogenetic diagnosis
DOI:
https://doi.org/10.51481/amc.v53i1.703Keywords:
22q11 deletion syndrome, Velo-cardio-facial syndrome, Di George sequence, congenital heart disease, cleft palate, immunodeficiency, FISHAbstract
The 22q11 deletion syndrome is an autosomic recessive disease caused by a 22q11 microdeletion. We report the first 3 cases of this syndrome in Costa Rica, confirmed by cytogenetics, in situ fluorescence hybridization showed the 22q11 microdeletion. Due to clinical suspicion it was requested in 2 boys and one girl with congenital conotruncal heart disease. As of today, 2 of the cases are alive and 1 died in the immediate postoperative period of corrective cardiac surgery. When their symptoms began, in the 3 cases failure to thrive was noted and in 2, dimorphism related to abnormal facial features. In 1 case, cleft palate was recorded and, pie bott in another. Although congenital heart disease is a clinical finding that frequently persuades physicians into thinking about this syndrome, the most common phenotypical signs are cognitive and behavioral disorders.
Downloads
References
Gothelf D, Frisch A, Michaelowsky E, Weizman A Shprintzen RJ. Velo-Cardio-Facial Syndrome. J Ment Health Res Intellect Disabil 2009; 2:149-167.
Di George AM, Lischner HW, Dacou C, Arey JB. Absence of the thymus. Lancet 1967; 1:1387.
Sullivan KE. Chromosome 22q11.2 deletion syndrome: Di George syndrome/velocardiofacial syndrome. Immunol Allergy Clin N Am 2008; 28: 353-366.
Sullivan KE. Di George Syndrome and Chromosome 22q11.2 deletion syndrome. En: Stiehm ER, Ochs HD, Winkelstein JA, eds.
Immunologic disorders in infants and children. 5th edition. Philadelphia: Elsevier Saunders, 2004: 523-530.
Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004; 89:148-151.
Oskarsdóttir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 2005; 164: 146-153.
Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 2008; 14:3-10.
Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev 2008; 14: 11-18.
Manual de procedimientos del Laboratorio de Citogenética-Hospital Nacional de Niños.
Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndrome. Lancet 2007; 370:1443-1452.
The Velo-Cardio-Facial Syndrome Educational Foundation. Velocardio-facial syndrome: specialist fact sheet. En: http://www.vcfsef. org/pdf/VCFS_Factsheet_07.pdf. Consultado el 28 de octubre de 2010.
Butts SC. The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 2009; 73: 343-350.
Oskarsdóttir S, Holmberg E, Fasth A, Strömland. Facial features in children with the 22q11 deletion syndrome. Acta Paediatr 2008; 97:
-1117.
Downloads
Published
Issue
Section
License
Copyright (c) 2011 Acta Médica Costarricense
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Los autores que publican en la revista Acta Médica Costarricense pueden distribuir, copiar, remezclar, retocar, leer, descargar, imprimir, buscar y crear a partir de su obra de modo no comercial, indicando los créditos a la revista y sus autores y compartir su obra en las mismas condiciones. Para ello se aplica la licencia Creative Commons Reconocimiento-NoComercial-CompartirIgual 4.0 Internacional(CC BY-NC-SA 4.0)
