产前诊断22号染色体三体嵌合1例并文献复习  

Prenatal diagnosis of trisomy 22 mosaicism:a case report and literature review

作　　者：彭亚琴 刘文[1] 徐晶晶 胡月[1] 宋雅娴[1] 何国平 吴丽敏[1] 汪菁 PENG Yaqin;LIU Wen;XU Jingjing;HU Yue;SONG Yaxian;HE Guoping;WU Limin;WANG Jing(Prenatal Diagnosis Center,The First Affiliated Hospital of USTC,Division of Life Sciences and Medicine,University of Science and Technology of China,Hefei,Anhui230036,China;Department of Obstetrics and Gynecology,The First Affiliated Hospital of USTC,Division of Life Sciences and Medicine,University of Science and Technology of China,Hefei,Anhui230036,China)

机构地区：[1]中国科学技术大学附属第一医院(安徽省立医院)妇产科产前诊断中心,安徽合肥230036 [2]中国科学技术大学附属第一医院(安徽省立医院)妇产科,安徽合肥230036

出　　处：《安徽医药》2021年第2期271-276,共6页Anhui Medical and Pharmaceutical Journal

基　　金：中国科学技术大学新医学联合基金培育项目(WK9110000051)。

摘　　要：目的总结22号染色体三体嵌合的临床特征,提高对22号染色体三体嵌合的产前诊断及遗传咨询水平。方法回顾性分析2018年就诊于安徽省立医院产前诊断中心确诊为22号染色体三体嵌合胎儿的病例1例,并检索相关文献,总结主要临床特征。结果病人28岁,17+6周无创DNA检测提示22号染色体三体高风险,孕18周产前超声筛查提示无明显异常,孕20周进行羊膜腔穿刺,羊水细胞核型为47,XX,+22[5]/46,XX[69],基因组拷贝数变异测序(CNV-Seq)结果提示22号染色体存在三体嵌合,比例约为20%。相关文献报道22号染色体三体嵌合的临床特征主要包括:低耳位、发育迟缓、先天性心脏病、身体对称生长受限、指甲发育异常、第5指内弯等。结论22号染色体三体嵌合病人的临床表型具有差异性,产前诊断时应联合多种检测方法尽量避免漏检,同时应告知病人该项检测的局限性,由病人自行决定是否继续妊娠。Objective To summarize the clinical characteristics and improve the accuracy of prenatal diagnosis and genetic consultation of trisomy 22 mosaicism.Methods A case of a fetus detected with trisomy 22 mosaicism diagnosed at the Prenatal Diagnosis Center of Anhui Provincial Hospital in 2018 was retrospectively analyzed.Meanwhile,published similar cases were also retrieved to summarize the clinical features.Results A 28-year-old pregnant woman underwent the non-invasive prenatal DNA testing at 17+6 weeks.High risk of trisomy 22 was indicated.Prenatal ultrasound at the 18th week of gestation did not show any significant structural abnormalities.In the 20th week,amniocentesis was carried out for chromosomal analysis and genome copy number variation sequencing(CNV-seq)test.Amniotic fluid cell karyotype was 47,XX,+22[5]/46,XX[69].CNV-seq testing also suggested that there was trisomy 22 mosaicism,and the mosaic ratio was around 20%.According to the literatures,the most common clinical features in patients with mosaic trisomy 22 were low set ears,developmental delay,congenital heart disease,body asymmetry,dysplastic nails and 5th finger clinodactyly.Conclusions Due to the presentation variability of trisomy 22 mosaicism,multiple testing methods should be combined to increase the detection of rare chromosome abnormalites.Moreover,we should inform the limitations of the screening testing to patients and decided by herself whether to continue the pregnancy or not.

关 键 词：染色体畸变 染色体 人 21-22和Y 染色体 人 22对 22号染色体三体嵌合 核型 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]