Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.
作者： Bruna Lixinski Diniz , Andressa Schneiders Santos , Andressa Barreto Glaeser , Bruna Baierle Guaraná , Cláudia Fernandes Lorea
关键词: Nose 、 Skull 、 22q11 Deletion Syndrome 、 Pulmonary valve 、 Medicine 、 Aortic arch 、 Heart disease 、 Cardiology 、 Persistent truncus arteriosus 、 Internal medicine 、 Bicuspid aortic valve
摘要: 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 other features. Thus, aim this work was to verify profile dysmorphic features and defects found patients referred a reference center Southern Brazil clinical findings suggestive 22q11.2DS. In overall sample group, only facial (skull, eyes, ear, nose) associated CHD (obstructive pulmonary valve ring, truncus arteriosus, bicuspid aortic atrial septal defect and/or right arch) had deletion. These proved be reliable criteria for referral perform fluorescent situ hybridization investigation
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