一例Pallister-Killian综合征的产前诊断  

Prenatal diagnosis of a case of Pallister-Kiilian syndrome

作　　者：席惠[1] 王华[1] 贾政军[1] 周玉春[1] 禹虹[1] 刘静[1] 邬玲仟[2] 

机构地区：[1]湖南省妇幼保健院湖南省产前诊断中心,长沙410008 [2]中南大学医学遗传学国家重点实验室

出　　处：《中华医学遗传学杂志》2015年第1期73-76,共4页Chinese Journal of Medical Genetics

基　　金：湖南省卫生厅一般资助项目（132012-109,132007-164）;湖南省科技厅一般资助项目（2009SK3048）

摘　　要：目的探讨Pallister—Killian综合征（Pallister—Killian syndrome，PKs）的临床特征及遗传学特点，提高对此类罕见染色体疾病的认识，并探讨联合多种分析手段检出PKS在产前诊断中的应用。方法采集1例患儿及其父母外周血行淋巴细胞染色体G显带并提取外周血gDNA，通过单核苷酸多态性微阵列芯片（singlenucleotide polymorphismarray，SNParray）全基因组拷贝数变异分析、皮肤成纤维细胞染色体核型分析和外周血间期FISH来确诊PKS综合征。结果患儿外周血淋巴细胞染色体G显带核型为46，XY，父母染色体核型未见异常；SNP-array全基因组拷贝数变异发现患儿12号染色体短臂重复，外周血间期核FISH结果为nucish（RP11-10485，RP11-956A19）×4[19／100]；皮肤组织成纤维细胞染色体G显带，确定核型为47，XY，＋i（12）（p10）[44]／46，XY[56]，综合上述结果考虑为PKS。结论通过结合临床特征、SNParray、皮肤成纤维细胞核型分析和FISH可有效进行PKS诊断。Objective To study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease. Methods Standard （J-banding was carried out for the patient and his parents. Single nucleotide polymorphism array （SNP array） for copy number detection was applied to identify chromosome microdeletion or microduplication. Interphase fluorescence in situ hybridization （FISH） and cytogenetic analyses of fibroblast cells were performed based on the Results of array. Results The patient＇s G-banded karyotype has turned out to be 46,XY, whilst his parents were both normal. A duplication of the whole short arm of chromosome 12 was detected by SNP array in the child. The result of interphase FISH performed on interphase chromosomes derived from peripheral blood cells was nuc ish （RP11-104 b5, a19 RP11-956）× 4[19/100], whilst the karyotypeof fibroblast cells was 47,XY,＋i（12）（p10）[44]/46,XY[56]. Conclusion By combining with clinical characteristics, SNP array, skin fibroblasts karyotype analysis and FISH can diagnose Pallister-Killian syndrome effectively.

关 键 词：Pallister—Killian综合征 12p等臂染色体 单核苷酸多态性微阵列芯片 荧光原位杂交 

分 类 号：R596[医药卫生—内科学]