联合应用染色体核型分析、微阵列分析和荧光原位杂交技术诊断Pallister-Killian综合征胎儿一例  

Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods

作　　者：侯东霞 侯丽青 董弘 周燕 周雪原 冀云鹏 冀小平 王晓华 Hou Dongxia;Hou Liqing;Dong Hong;Zhou Yan;Zhou Xueyuan;Ji Yunpeng;Ji Xiaoping;Wang Xiaohua

机构地区：[1]内蒙古自治区妇幼保健院,呼和浩特010021

出　　处：《中华医学遗传学杂志》2020年第11期1276-1279,共4页Chinese Journal of Medical Genetics

基　　金：内蒙古自治区自然科学基金(2018BS08008)。

摘　　要：目的探讨多种分子细胞遗传技术联合应用在Pallister-Killian综合征(Pallister-Killian syndrome,PKS)产前诊断中的应用价值,并探讨PKS产前病例的临床特征及遗传学特点。方法羊水穿刺取一例超声下肢畸形胎儿的羊水细胞,采用G显带核型分析、染色体微阵列分析(chromosomal microarray analysis,CMA)和荧光原位杂交(fluorescence in situ hybridization,FISH)技术进行检测。结果G显带核型分析显示羊水细胞核型为mos47,XY,+mar[55]/46,XY[10];CMA结果显示arr[hg19]12p13.33p11.1(173786-34835641)×4,即胎儿12号染色体12p13.33p11.1区域有34.6 Mb片段的四倍重复,但未显示嵌合率;FISH检测进一步确认12染色体短臂为为四体嵌合,嵌合率为70%。结论核型分析、CMA和FISH技术联合应用可为PKS病患提供精确的遗传诊断,应在临床应用中推广;胎儿下肢不等长是PKS肢体畸形的新的表型补充。Objective To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome(PKS).Methods 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.Results 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.Conclusion 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.

关 键 词：Pallister-Killian综合征 染色体微阵列分析 短肢畸形 12p等臂染色体 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]