中央型22q11.2缺失综合征8例的遗传学诊断与分析  

Genetic diagnosis and analysis of eight cases with central 22q11.2 deletion syndrome

作　　者：郭静 李鹏云[1] 车佳 翟闪闪[1] 田伟芳[1] 李莹[1] 张华[1] 刘灵[1] Guo Jing;Li Pengyun;Che Jia;Zhai Shanshan;Tian Weifang;Li Ying;Zhang Hua;Liu Ling(Prenatal Diagnosis Center,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第三附属医院产前诊断中心,郑州1450052

出　　处：《中华医学遗传学杂志》2024年第2期145-149,共5页Chinese Journal of Medical Genetics

基　　金：河南省重点研发与推广专项(科技攻关)(212102310471)。

摘　　要：目的探讨LCR22B/C~D型的中央型22q11.2缺失综合征胎儿的妊娠结局及产后临床表型。方法收集2019年1月至2022年4月于郑州大学第三附属医院产前诊断中心通过染色体微阵列分析(CMA)技术确诊为中央型22q11.2缺失的病例,分析胎儿产前影像学表现、父母CMA验证结果、妊娠结局及产后临床表型。结果共纳入8例中央型22q11.2缺失病例,其中6例为LCR22B~D型22q11.2缺失,2例为LCR22C~D型22q11.2缺失。6例LCR22B~D型22q11.2缺失中有3例超声提示心血管系统异常(胎儿右位主动脉弓、室间隔缺损、三尖瓣轻度反流),1例提示泌尿系统异常(胎儿右肾异位);2例LCR22C~D型22q11.2缺失超声提示羊水过少合并生长受限、胎儿颈后皮肤层增厚,均为非特异性影像学表现。6例进行了父母CMA亲本验证,均遗传自父母,其中5例继续妊娠至足月,产后随访患儿体格与智力发育均未见异常,1例因胎儿右肾异位选择终止妊娠;2例未进行父母CMA验证,选择了终止妊娠。结论上述研究的LCR22B/C~D型的中央型22q11.2缺失综合征不同于经典的22q11.2缺失综合征,其遗传信息主要来源于父母,产前影像学主要表现为心血管和泌尿系统异常,出生后体格及智力发育均未见异常,应为父母提供客观的产前遗传咨询。Objective To explore the pregnancy outcome and postpartum clinical phenotype of LCR22B/C~D central 22q11.2 deletion syndrome.Methods For fetuses diagnosed with central 22q11.2 deletion by chromosomal microarray analysis(CMA)at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January 2019 to April 2022,their prenatal imaging,parental CMA verification,pregnancy outcomes and postpartum clinical phenotype were analyzed.Results Eight cases of central 22q11.2 deletion syndrome were included,including six cases with LCR22B~D 22q11.2 deletions and two with LCR22C~D 22q11.2 deletions.Among the six cases with LCR22B~D type 22q11.2 deletions,three had shown cardiovascular malformations(right aortic arch,ventricular septal defect,mild tricuspid regurgitation),one had shown urinary defect(right kidney heterotopia).Two cases with LCR22C~D 22q11.2 deletions showed nonspecific ultrasonographic findings,including oligohydramnios with growth restriction and nuchal skin thickening.The CMA verification showed that six cases were inherited from their parents,and five couples had chosen to continue with the pregnancy.Postpartum follow-up showed that the physical and intellectual development of all children were normal.One couple had opted to terminate the pregnancy considering the ectopic fetal right kidney.Two remaining cases had decided to terminate their pregnancies without parental verification.Conclusion The central 22q11.2 deletion syndrome of the LCR22B/C~D type is different from the classical types.Its genetic information mainly comes from parents.Prenatal imaging has mainly shown cardiovascular and urinary abnormalities.Postnatal growth and intellectual development have been normal.Therefore,the couples should be provided with suffice prenatal genetic counseling.

关 键 词：中央型22q11.2缺失综合征 产前表型 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]