Hou Dongxia, Hou Liqing, Dong Hong, Zhou Yan, Zhou Xueyuan, Ji Yunpeng, Ji Xiaoping, Wang Xiaohua
Department of Genetics and Birth Health, Maternal and Child Health Care Hospital of Inner Mongolia Autonomous Region, Hohhot, Inner Mongolia Autonomous Region 010021, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Nov 10;37(11):1276-1279. doi: 10.3760/cma.j.cn511374-20191101-00554.
To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS).
The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay.
G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes.
Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
对一名患有帕利斯特-基利安综合征（PKS）的胎儿进行产前诊断。
该胎儿在孕23周时被发现存在肢体畸形。在其父母签署知情同意书后，采集胎儿羊水样本，进行染色体核型分析、染色体微阵列分析（CMA）和荧光原位杂交（FISH）检测。
G显带分析提示胎儿核型为mos47,XY,+mar[55]/46,XY[10]。使用CytoScan 750K微阵列对培养的羊水细胞进行CMA分析，发现12p13.33p11.1存在节段性四体重复。FISH检测证实，使用12pter/12qter探针检测中期羊水细胞时，12号染色体短臂四体的镶嵌比例为70%。
联合使用G显带核型分析、CMA和FISH分析能够诊断该胎儿的PKS。虽然短肢是PKS的常见特征，但此前未见股骨长度不等的报道，这拓宽了PKS相关肢体异常的范围。
