Abstract

PORRAS, Oscar; OBANDO-JIMENEZ, Catalina  and  MAS, Carlos. 22q11 Deletion Syndrome (Velo-Cardio-Facial syndrome), report of the first cases in Costa Rica with cytogenetic diagnosis. Acta méd. costarric [online]. 2011, vol.53, n.1, pp.37-41. ISSN 0001-6002.

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.

Keywords : 22q11 deletion syndrome; Velo-cardio-facial syndrome; Di George sequence; congenital heart disease; cleft palate; immunodeficiency; FISH.

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