Abstract

DEL CARMEN MONTES, Cecilia et al. Clinical fndings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina. Arch. argent. pediatr. [online]. 2013, vol.111, n.5, pp.423-427. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2013.423.

The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other chromosomal abnormalities and genetic syndromes in phenotypically similar patients. This series was made up of 268 patients with clinical criteria supporting the diagnostic suspicion attended at the Hospital de Niños and Hospital Privado, of Córdoba, between March 1^st, 2004 and August 31^st, 2011. The following parameters were analyzed: age at the time of the diagnosis, sex, clinical manifestations, and mortality. Thirty-two patients (19 males and 13 females) had a positive result for this deletion. The diagnosis was made mostly in their frst months and years of life (age range: 7 days old-31 years old). The clinical manifestations were: congenital heart diseases (22/32), thymic hypoplasia-agenesis/ recurrent infections (10/32), velopalatal insuffciency (8/32). Five patients died; four due to a complication associated with their cardiovascular disease and one due to multiple organ failure. The clinical manifestations of the syndrome were varied.

Keywords : 22qll.2 microdeletion; FISH 22qll.2; DiGeorge/velo-cardio-facial syndrome; Congenital heart disease.

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