小结
定义
经典表现为心脏异常、胸腺发育不良和低钙血症（由甲状旁腺发育不全引起）三联征。22q 缺失综合征（22qDS），包括 DiGeorge综合征或软颚-心-面综合征，是染色体 22q11.2 一个拷贝缺失所导致的一系列形态学及神经系统特征性表现。该缺失导致咽弓发育的关键转录因子 TBX1 水平降低。这种发育干扰可导致心脏异常、免疫异常、唇腭裂、甲状旁腺功能减退症、学习障碍及精神分裂症。该疾病因各种特征的外显率具有明显差异而令人注意。该综合征又被命名为 CATCH22、Shprintzen 综合征等。这种复杂的命名归因于其临床综合征的显著变异性。
DiGeorge综合征分为两种表型。 第一，咽表型包括先天性心脏病、甲状旁腺发育不良、胸腺发育不良及伴随的T细胞免疫缺陷、唇腭裂及轻度颌面部畸形。 第二，神经表型包括轻度认知障碍，典型表现为学习障碍、语言障碍及精神分裂症发病率增加。
[Figure caption and citation for the preceding image starts]: 已被基因拷贝数分析证实为22q11.2一个拷贝数缺失。收集来自Sean A.McGhee，MD和Maria Garcia Lloret，MD [Citation ends].
病史和体格检查
诊断性检查
治疗流程
撰稿人
作者
Clinical Associate Professor
Stanford University
Stanford
CA
利益声明
SAMG has provided testimony as an expert in a criminal case in which immune deficiency was a concern. SAMG is a co-author of a reference cited in this topic.
Assistant Professor
David Geffen School of Medicine at UCLA
Los Angeles
CA
利益声明
MGL is a co-author of a reference cited in this topic.
同行评议者
Director
Centro de Genetica Humana
Facultad de Medicina
Clínica Alemana-Universidad del Desarrollo
Santiago
Chile
利益声明
GMR is a co-author of a reference cited in this topic.
Associate Professor of Pediatrics
Division of Pulmonary, Allergy & Immunology, Cystic Fibrosis, and Sleep
Emory University
Atlanta
GA
利益声明
LK is an investigator in clinical trials by Baxter Bioscience. These trials do not involve patients with 22q11DS. LK is an author of a number of references cited in this topic.
Consultant Immunologist
Department of Immunology
Great Ormond Street Hospital
London
UK
利益声明
WI declares that she has no competing interests.
内容使用需遵循免责声明