染色体易位合并嵌合型标记染色体致猫叫综合征一例  

A Case of Chromosomal Translocation Combined with Chimeric Marker Chromosome Induced Cri-Du-Chat Syndrome

作　　者：田维娟 周美花 蒋璐西 张琼[1] TIAN Wei-juan;ZHOU Mei-hua;JIANG Lu-xi;ZHANG Qiong(Affiliated Hospital of Yunnan University,Kunming 650051,China;Family Planning Service Center of Xiangyun County Maternity and Children Healthcare Hospital,Xiangyun 672100,Yunnan Province,Chin)

机构地区：[1]云南大学附属医院,昆明650051 [2]祥云县妇幼保健计划生育服务中心

出　　处：《国际生殖健康／计划生育杂志》2023年第5期380-383,共4页Journal of International Reproductive Health/Family Planning

基　　金：兴滇英才支持计划-名医专项(XDYC-MY-2022-0059)。

摘　　要：采用无创产前筛查(noninvasive prenatal testing,NIPT)、拷贝数变异测序(copy number variation sequencing,CNV-seq)和染色体核型分析技术,对妊娠中期唐氏筛查临界风险(1/476)和超声提示左侧脉络丛囊肿的1例胎儿进行遗传学病因分析。NIPT结果提示胎儿5p15.2-p15.33存在8.49 Mb缺失高风险,CNV-seq结果显示胎儿5号染色体p.15.2-p.15.33缺失,缺失片段涉及猫叫综合征相关的关键区域。染色体核型分析结果显示胎儿核型为:46,XX,der(5)t(5;21)(p15.2;q11.1),-21,+mar dn[85],父母染色体核型分析结果提示该胎儿核型为新发变异。通过多方法联合进行产前筛查和诊断,发现了1例复杂核型的猫叫综合征胎儿,丰富了猫叫综合征的染色体变异类型,说明多方法联合筛查和诊断对出生缺陷防治具有重要意义。The genetic etiology was comprehensively tested by noninvasive prenatal testing(NIPT),copy number variation sequencing(CNV-seq)and chromosome karyotype analysis in a fetus case with the critical risk of Down′s screening(1/476)in the second trimester of pregnancy.In this fetus,ultrasound found the choroid plexus cyst of left side,and NIPT indicated the high risk of 8.49 Mb deletion of 5p15.2-p15.33.The deletion of p.15.2-p.15.33 of chromosome 5 was indicated by CNV-seq,which was involved in the key regions related to Cridu-Chat syndrome.Chromosome karyotype analysis showed that the fetal karyotype was 46,XX,der(5)t(5;21)(p15.2;q11.1),-21,+mar dn[85],and that the parental karyotypes were normal,which suggested that the abnormity of fetal karyotype was a new mutation.In this study,a fetus with complex karyotype of Cri-du-Chat syndrome was diagnosed by the multiple prenatal methods.This case enriches the types of chromosome variation in Cri-du-Chat syndrome and demonstrates the importance of multi-method screening and diagnosis for the prevention of birth defects.

关 键 词：猫叫综合征 产前诊断 非侵入性产前检测 易位 遗传 病例报告 

分 类 号：R714.55[医药卫生—妇产科学]