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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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）
