Diniz Bruna Lixinski, Santos Andressa Schneiders, Glaeser Andressa Barreto, Guaraná Bruna Baierle, Lorea Cláudia Fernandes, Josahkian Juliana Alves, Huber Janaína, Rosa Rafael Fabiano Machado, Zen Paulo Ricardo Gazzola
Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Department of Biomedicine, UFCSPA, Porto Alegre, RS, Brazil.
J Pediatr Genet. 2020 Dec;9(4):227-234. doi: 10.1055/s-0040-1713155. Epub 2020 Jun 17.
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 hybridization investigation for 22q11.2 deletion.
22q11.2缺失综合征（22q11.2DS）被认为是与先天性心脏病（CHD）相关的最常见染色体异常之一，其还可能包括其他特征的某种组合。因此，本研究的目的是核实巴西南部一家参考中心接诊的、临床检查结果提示22q11.2DS的患者中所发现的畸形特征和心脏缺陷情况。在整个样本组中，只有伴有CHD（梗阻性肺动脉瓣环、动脉干、与房间隔缺损和/或右位主动脉弓相关的二叶式主动脉瓣）的面部畸形特征（颅骨、眼睛、耳朵和鼻子）患者存在22q11.2缺失。这些发现被证明是用于转诊以进行22q11.2缺失荧光杂交检测的可靠临床标准。
