染色体易位合并嵌合型标记染色体致猫叫综合征一例

doi:10.12280/gjszjk.20230093

摘要/Abstract

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。

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

Abstract:

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 Cri-du-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.

Key words: Cri-du-Chat syndrome, Prenatal diagnosis, Noninvasive prenatal testing, Translocation, genetic, Case reports

田维娟, 周美花, 蒋璐西, 张琼. 染色体易位合并嵌合型标记染色体致猫叫综合征一例[J]. 国际生殖健康/计划生育杂志, 2023, 42(5): 380-383.

TIAN Wei-juan, ZHOU Mei-hua, JIANG Lu-xi, ZHANG Qiong. A Case of Chromosomal Translocation Combined with Chimeric Marker Chromosome Induced Cri-Du-Chat Syndrome[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(5): 380-383.

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