Síndrome con deleción 22q11 (Síndrome velocardiofacial), reporte de los primeros casos en Costa Rica con diagnóstico citogenético

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.