Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease

Programa de Licenciatura en Biología y Educación Ambiental, Universidad del Quindío, Armenia, Colombia.
Investigación clínica (Impact Factor: 0.47). 12/2011; 52(4):334-43.
Source: PubMed


Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.

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    • "La manifestación clínica más frecuente que se observa en estos pacientes son las alteraciones cardiacas (se presentan en el 70 – 90% de los sujetos ) (Salazar et al., 2011). Por orden de frecuencia le siguen otras anomalías como las malformaciones velopalatinas, la presencia de hipocalcemia (Mussai et al., 2008; Angle, 2007; Pusceddu et al., 2002), la agenesia del timo (McClarren et al., 2006; Piliero et al., 2004) y las alteraciones inmunológicas (Gennery, 2012). "
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