%0 Journal Article
%T S¨ªndrome con deleci¨®n 22q11 (S¨ªndrome velocardiofacial), reporte de los primeros casos en Costa Rica con diagn¨®stico citogen¨¦tico
%A Porras
%A Oscar
%A Obando-Jim¨¦nez
%A Catalina
%A Mas
%A Carlos
%J Acta M¨¦dica Costarricense
%D 2011
%I Scientific Electronic Library Online
%X 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.
%K 22q11 deletion syndrome
%K velo-cardio-facial syndrome
%K di george sequence
%K congenital heart disease
%K cleft palate
%K immunodeficiency
%K fish.
%U http://www.scielo.sa.cr/scielo.php?script=sci_abstract&pid=S0001-60022011000100010&lng=en&nrm=iso&tlng=en