应用BACs-on-Beads^TM和SNP-array技术产前诊断18p四体综合征一例  

Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads^TM technology and single nucleotide polymorphism array

作　　者：姜湖铃 平泽朋 王路明[1] 金玉霞[1] 李素萍[1] 刘晓丹[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》2017年第6期857-860,共4页Chinese Journal of Medical Genetics

基　　金：嘉兴市科技计划项目（2014AY21048,2014AYL045）

摘　　要：目的应用产前BACs—on-Beads^TM（BoBs）和单核苷酸多态性微阵列技术（single nucleotide polymorphism array，SNP—array）鉴定1例胎儿标记染色体。方法对1例产前BoBs检测提示存在18号染色体部分重复、羊水核型分析证实其携带额外标记染色体的胎儿进行SNP—array分析。结果BoBs检测提示胎儿染色体18p11．32和18p11．21区存在扩增，染色体分析证实其核型为47，XX，＋mar。SNP—array检测提示其在18p11．32q11．1区存在18．3Mb的拷贝数增加。结论明确该胎儿核型为47，XX，＋der18（18p11．32→18q11．1：：18q11．1→18p11.32），其4倍重复涉及SMCHD1、LPIN2、TGIF1等重要基因，可能导致严重的胎儿畸形。Objective To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-BeadsTM （BoBs） and single nucleotide polymorphism array （SNP-array） assays. Methods The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray. Results The fetus was found to have a 47,XX, if-mar karyotype. BoBs analysis indicated that there was an amplification between 18p11. 32 and 18p11. 21, which was verified by the SNP-array assay as a 18. 3 Mb duplication occurring at 18p1l. 32q11.1. Conclusion The karyotype of the fetus was determined as 47,XX, ＋der18（18p11. 32→18q11.1：： 18q11.1-→18p11. 32）. The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.

关 键 词：产前BACs-on-Beads^TM检测 等臂染色体 单核苷酸多态性微阵列 18p四体综合征 

分 类 号：R714.5[医药卫生—妇产科学]