22q11微缺失综合征的临床表型变异范围广泛,其典型的临床表现是心脏畸形,面容异常,胸腺发育不全,腭裂和低钙血症。进行产前诊断的人群主要是:曾经有22q11微缺失综合征孕产史的夫妇,自身是22q11微缺失患者的夫妇和宫内监测到妊娠胎儿有心脏锥干畸形者。产前诊断的方法主要有:常规染色体核型分析,荧光原位杂交,多重PCR,实时定量PCR和微阵列-比较基因组杂交。 The clinical manifestations of 22q11 microdeletion syndrome vary widely, and its typical clinical manifestations are cardiac malformation, abnormal facial appearance, thymus hypoplasia, cleft palate and hypocalcemia. Prenatal diagnosis of the population are mainly: once there 22q11 microdetrophy syndrome, history of pregnant couples, 22q11 itself is a microdeletion of patients and intrauterine fetal pregnancy monitoring fetal cone conformation. Prenatal diagnosis methods are: conventional chromosome karyotype analysis, fluorescence in situ hybridization, multiplex PCR, real-time quantitative PCR and microarray-comparative genomic hybridization.