Prenatal diagnosis of Pallister-Killian syndrome: a report of two cases

VernacularTitle:产前诊断Pallister-Killian综合征2例
Author: Chongyang ZHU ¹ ; Jing GUO ; Chunxu LI ; Ling ZHAO ; Yueli WU ; Ling LIU
Author Information

1. 郑州大学第三附属医院产前诊断中心，郑州　450003
Keywords: Chromosomes, human, pair 12; Chromosome disorders; Karyotyping; DNA copy number variations; Ultrasonography, prenatal
From: Chinese Journal of Perinatal Medicine 2023;26(9):774-777
CountryChina
Language:Chinese
Abstract: This 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.