Open AccessCongenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil
Author(s) -
Bruna Lixinski Diniz,
Andressa Schneiders Santos,
Andressa Barreto Glaeser,
Bruna Baierle Guaraná,
Cláudia Fernandes Lorea,
Juliana Alves Josahkian,
Janaína Huber,
Rafael Fabiano Machado Rosa,
Paulo Ricardo Gazzola Zen
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1713155
Subject(s) - bicuspid aortic valve , digeorge syndrome , medicine , truncus arteriosus , deletion syndrome , heart disease , heart defect , fluorescence in situ hybridization , cardiology , pectus excavatum , nose , aortic valve , anatomy , tetralogy of fallot , genetics , chromosome , psychiatry , biology , gene , phenotype
22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent in situ hybridization investigation for 22q11.2 deletion.