ＣＡＴＣＨ２２综合征是２２号染色体长臂近端（２２ｑ１１）缺失引起的，以心脏畸形、颅面畸形、胸腺发育不全和甲状旁腺发育不全为特征的遗传综合征，研究表明其临床表现变异范围广泛，绝大多数病例存在２２ｑ１１微缺失，检测２２ｑ１１微缺失具有重要临床意义。 CATCH22 syndrome is caused by the deletion of 22q11 near the long arm of chromosome 22, a syndrome characterized by cardiac deformity, craniofacial deformity, thymus hypoplasia and hypoparathyroidism. Studies have shown that its clinical manifestations vary widely , The vast majority of cases exist 22q11 microdeletions, detection of 22q11 microdeletions has important clinical significance.