DiGeorge 异常(DGA)是由于第三、第四咽囊缺陷所致。此综合征以胸腺及甲状旁腺萎缩、发育不全、心脏畸形和一些表型异常为特征。DGA 基本的发病机制还不清楚,并且多数的病例是散发的,然而一些相似的病例的存在及在一些患者中22q 缺失的出现提示 DGA 尚有遗传的原因。文献复习,有一些10p 缺失与 DGA 部分征象联合出现的病例。在此,本文作者报道1例具有明确DGA 特征的10p 缺失。 DiGeorge abnormalities (DGA) are due to the third and fourth pharyngeal defects. This syndrome is characterized by thymus and parathyroid atrophy, hypoplasia, cardiac abnormalities and some phenotypic abnormalities. The underlying pathogenesis of DGA is unclear and the majority of cases are sporadic, however, the presence of some similar cases and the presence of a 22q deletion in some patients suggest that genetic causes of DGA are still present. Literature review, there are some cases of 10p deletion and DGA part of the signs of joint cases. Here, the authors report a case of 10p deletion with a defined DGA signature.