产前诊断47, XN, -18, +inv(18)(p11q21.1), +inv(18)(p11q21.1)一例

doi:10.12280/gjszjk.20210614

摘要/Abstract

摘要：

报告1例采用传统的染色体核型分析技术对血清学筛查18-三体高风险,超声提示胎儿生长受限（fetal growth restriction,FGR）、室间隔缺损、唇裂合并腭裂、右侧脉络丛囊肿的胎儿进行家系遗传学病因检测,明确了胎儿同时携带1条正常18号染色体及2条18号染色体臂间倒位的衍生染色体。父母染色体核型分析提示2条18号衍生染色体应遗传自母亲。本研究丰富了18-三体综合征的染色体核型变异类型,为今后产前诊断临床咨询提供参考数据。

关键词: 染色体倒位, 产前诊断, 核型分析, 三体性, 18-三体综合征

Abstract:

The genetic etiology was tested by the conventional karyotype analysis technology in a fetus case with the high risk of 18-trisomy found by serological screening. Ultrasound found the fetal growth restriction (FGR), ventricular septal defect, the mergered cleft lip and cleft palate, and the right side of choroid plexus cyst in this case. The pedigree and genetic etiological analysis was then conducted. The results showed that the fetus carried one normal chromosome 18 and two inverted derived chromosomes of chromosome 18 at the same time. Parental chromosome karyotypes indicated that the two derived chromosomes 18 should be inherited from the mother. This case report enriched the karyotype variation type of trisomy 18 syndrome, and provided a new reference for the future prenatal diagnosis and clinical consultation.

Key words: Chromosome inversion, Prenatal diagnosis, Karyotyping, Trisomy, Trisomy 18 syndrome

李燕青, 傅婉玉, 庄建龙. 产前诊断47, XN, -18, +inv(18)(p11q21.1), +inv(18)(p11q21.1)一例[J]. 国际生殖健康/计划生育, 2022, 41(2): 119-120.

LI Yan-qing, FU Wan-yu, ZHUANG Jian-long. Prenatal Diagnosis of A Case of 47, XN, -18, +inv(18)(p11q21.1), +inv(18)(p11q21.1)[J]. Journal of International Reproductive Health/Family Planning, 2022, 41(2): 119-120.

图/表 1

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