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

Marleny Salazar, Guiovanny Villalba, Heidi Mateus, Victoria Villegas, Dora Fonseca, Federico Núñez, Víctor Caicedo, Sonia Pachón, Jaime E. Bernal

Resultado de la investigación: Contribución a RevistaArtículo

Resumen

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%.
Idioma originalEnglish (US)
Páginas (desde-hasta)334-343
Número de páginas10
PublicaciónInvestigacion Clinica
EstadoPublished - dic 1 2011

Huella dactilar

Atrial Heart Septal Defects
Heart Diseases
Teratology
Tetralogy of Fallot
Densitometry
Multiplex Polymerase Chain Reaction
Genetic Predisposition to Disease
Sepharose
Genes
Gels
Newborn Infant
Pathology
DNA
Incidence
Population

Citar esto

Salazar, M., Villalba, G., Mateus, H., Villegas, V., Fonseca, D., Núñez, F., ... Bernal, J. E. (2011). Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease. Investigacion Clinica, 334-343.
Salazar, Marleny ; Villalba, Guiovanny ; Mateus, Heidi ; Villegas, Victoria ; Fonseca, Dora ; Núñez, Federico ; Caicedo, Víctor ; Pachón, Sonia ; Bernal, Jaime E. / Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease. En: Investigacion Clinica. 2011 ; pp. 334-343.
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title = "Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease",
abstract = "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{\%}.",
author = "Marleny Salazar and Guiovanny Villalba and Heidi Mateus and Victoria Villegas and Dora Fonseca and Federico N{\'u}{\~n}ez and V{\'i}ctor Caicedo and Sonia Pach{\'o}n and Bernal, {Jaime E.}",
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Salazar, M, Villalba, G, Mateus, H, Villegas, V, Fonseca, D, Núñez, F, Caicedo, V, Pachón, S & Bernal, JE 2011, 'Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease', Investigacion Clinica, pp. 334-343.

Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease. / Salazar, Marleny; Villalba, Guiovanny; Mateus, Heidi; Villegas, Victoria; Fonseca, Dora; Núñez, Federico; Caicedo, Víctor; Pachón, Sonia; Bernal, Jaime E.

En: Investigacion Clinica, 01.12.2011, p. 334-343.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease

AU - Salazar, Marleny

AU - Villalba, Guiovanny

AU - Mateus, Heidi

AU - Villegas, Victoria

AU - Fonseca, Dora

AU - Núñez, Federico

AU - Caicedo, Víctor

AU - Pachón, Sonia

AU - Bernal, Jaime E.

PY - 2011/12/1

Y1 - 2011/12/1

N2 - 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%.

AB - 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%.

M3 - Article

SP - 334

EP - 343

JO - Investigacion Clinica

JF - Investigacion Clinica

SN - 0535-5133

ER -

Salazar M, Villalba G, Mateus H, Villegas V, Fonseca D, Núñez F y otros. Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease. Investigacion Clinica. 2011 dic 1;334-343.