LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome

Santos, Marlene Viviane Pires Fernandes; Gamba, Bruno Faulin; Empke, Stefany Lucas Lopes; Alves, Camila Cristina de Oliveira; Bérgamo, Nádia Aparecida; Ribeiro-Bicudo, Lucilene Arilho.

Int. j. cardiovasc. sci. (Impr.); 33 (4), 2020

Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most co...

Síndrome de DiGeorge/genética, Anomalías Congénitas/genética, Cardiopatías Congénitas/genética, Fenotipo, Insuficiencia Velofaríngea, Síndrome de Deleción 22q11/complicaciones, Asesoramiento Genético

Fulltext

Consideraciones anestésicas en pacientes con microdeleción del cromosoma 22q11

The syndrome produced by the deletion of chromosome 22q11 corresponds to a pattern of anomalies that occurs when a specific region of chromosome 22 is lost, specifically called 22q11.2. This microdeletion corresponds to the most frequent chromosomal alteration in humans, which has a prevalence of 1 per 4...