Abstract

RAMIREZ-CHEYNE, Julián et al. 22q11 deletion syndrome: embryology and diagnostic algorithm. Rev. Colomb. Cardiol. [online]. 2016, vol.23, n.5, pp.443-452.  Epub June 26, 2016. ISSN 0120-5633.  https://doi.org/10.1016/j.rccar.2016.05.008.

The 22q11 deletion syndrome is characterized by a variable group of phenotypic features secondary to the loss of genetic material located on the band 22q11.2. Its spectrum covers multiple syndromes, previously considered independent but nowadays related to the same etiology with overlapping anomalies, including DiGeorge and velocardiofacial syndromes. It presents alterations in the immune and cardiac systems, neurodevelopment and palatal defects amongst the most common problems.

This article is a review of the embryologic basis for the congenital heart defects, epidemiology, genetics, pathophysiology and clinical aspects of this disease. This is a rare disease but is a potentially underdiagnosed cause of morbidity and mortality in Colombia, for which a strategy for its active search is also proposed and diagnostic aspects are discussed.

Keywords : Genetics; 22q11del genotype; Congenital heart defects.

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