Resumo

MATTOS NAVARRO, Pablo; SALVATIERRA FRONTALILLA, Igor  e  BARTOS MIKLOS, Andrés. 22q11 deletion syndrome, case presentation. Rev. bol. ped. [online]. 2007, vol.46, n.1, pp. 24-28. ISSN 1024-0675.

DiGeorge syndrome and Velo-cardio-facial syndrome are clinical manifestations of 22q11 deletion syndrome, the most common genomic alteration found in humans, 1 for every 4000 births. On one side it includes extreme phenotypes that are easily identifiable, but some intermediate forms are difficult to recognize. We present the case of an infant that presented with features compatible with these syndromes, we describe the process that lead us to the diagnosis, the prognosis, and we present a brief revision of the literature.

Palavras-chave : congenital malformations; DiGeorge syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome.