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| CALDERÓN,JUAN FRANCISCO; PUGA,ALONSO R; GUZMÁN,M. LUISA; ASTETE,CARMEN PAZ; ARRIAZA,MARTA; ARACENA,MARIANA; ARAVENA,TERESA; SANZ,PATRICIA; REPETTO,GABRIELA M. |
| Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for the vascular endothelial growth factor A, have been associated with non-syndromic congenital heart disease, as well as with the presence of cardiovascular anomalies in patients with microdeletion 22q11. We evaluated the association of VEGFA polymorphisms c.-2578C>A (rs699947), c.-1154G>A (rs1570360) and c.-634C>G (rs2010963) with congenital heart disease in... |
| Tipo: Journal article |
Palavras-chave: Congenital heart disease; DiGeorge syndrome; Genetic modifiers; VEGFA; Velocardiofacial syndrome. |
| Ano: 2009 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007 |
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| Sandrin-Garcia,Paula; Richieri-Costa,Antonio; Tajara,Eloiza Helena; Carvalho-Salles,Andréa Borduchi; Fett-Conte,Agnes Cristina. |
| The velocardiofacial syndrome (VCFS), a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH) with the N25 (D22S75; 22q11.2) probe revealed deletions in ten individuals (62%). Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Velocardiofacial syndrome; 22q11.2 deletion. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100006 |
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