摘要本文报告了2例诊断为Pallister-Killian综合征（Pallister-Killian syndrome，PKS）的胎儿。孕妇1无创产前检测异常，取羊水标本分别行染色体核型分析和基因组拷贝数变异测序（copy number variation sequencing，CNV-seq）检测；孕妇2因产前超声检查发现脊髓圆锥位置低及双肾皮质回声增强，取羊水标本进行CNV-seq检测。结果孕妇1染色体核型结果为47，XN，+mar［30］/46，XN［10］。２例CNV-seq结果均显示12号染色体p13.33p11.1区段重复，拷贝数3～4，提示胎儿均存在12p四体嵌合。联合染色体核型分析、超声、CNV-seq，2例胎儿均诊断为PKS。经遗传咨询，孕妇及家属均选择终止妊娠。

abstractsThis article reported two fetuses diagnosed with Pallister-Killian syndrome (PKS). Amniotic fluid samples of one pregnant woman (case 1), with an abnormal result of non-invasive prenatal test, were analyzed by karyotyping and copy number variation-sequencing (CNV-seq), and samples of the other one (case 2), with a prenatal ultrasound of a lowered spinal conus and an enhanced echo of the renal cortex, were tested for CNV-seq. The chromosome karyotype of case 1 showed 47,XN,+mar[30]/46, XN[10]. CNV-seq results revealed three to four copies of repetition of the p13.33p11.1 segment of chromosome 12, suggesting 12p tetrasomy chimerism in both fetuses. The diagnosis of fetal PKS was confirmed through the combination of multiple technologies (ultrasound, chromosomal karyotype analysis, and CNV-seq). The two pregnancies were terminated after genetic counseling.