应用单核苷酸多态性-微阵列技术产前诊断胎儿标记染色体确诊Pallister-Killian综合征一例  

Prenatal diagnosis of a Pailister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array

作　　者：李素萍[1] 沈华祥[1] 金玉霞[1] 刘晓丹[1] 宋勤浩[1] 苗正友[1] 

机构地区：[1]浙江省嘉兴市妇幼保健院产前诊断中心,314000

出　　处：《中华医学遗传学杂志》2016年第5期682-685,共4页Chinese Journal of Medical Genetics

基　　金：浙江省科技计划项目（2013C33108）;嘉兴市科技计划项目（2014AY21048,2014AY21045）

摘　　要：目的应用单核苷酸多态性一微阵列技术（single nueleotide polymorphism array, SNP-array）鉴别来源不明的胎儿标记染色体，明确其遗传物质的来源，并探讨此技术在产前诊断中的应用价值。方法对1例染色体核型分析提示携带来源不明的额外小标记染色体（supernumerary small marker chromosome,sSMC） 胎儿进行SNP—array全基因组扫描分析，并用荧光原位杂交技术（fluorescence in situ hybridization,FISH）进行验证。结果胎儿染色体核型为47，XX，＋mar，基因芯片检测确定sSMC为12p13．33p11．1区存在34．6Mb片段拷贝数增加，FISH结果证实sSMC来源于12号染色体短臂。结论明确该胎儿核型为47，xX，＋i（12）（p10），查阅文献得知12p四体会引起Pallister-Killian综合征，导致多发畸形。SNP—array基因芯片技术可一次性检测到23对染色体存在的微重复和微缺失，明确标记染色体的遗传物质来源，适用于疑难病例的鉴别和微缺失微重复综合征的诊断。Objective To explore the origin of a supernumerary small marker chromosome（sSMC） in a fetus, and to assess the feasibility of single nucleotide polymorphism array （SNP-array） for prenatal diagnosis. Methods The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization （FISH）. Results The karyotype of the fetus was determined as 47,XX,＋mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p. Conclusion The karyotype of the fetus was determined as 47, XX,＋i（12） （pl0）. Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.

关 键 词：标记染色体 单核苷酸多态性一微阵列技术 产前诊断 12p四倍体 PallisterKillian综合征 

分 类 号：R714.55[医药卫生—妇产科学]