CAJ | 학술논문

目的应用单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)对1例携带非平衡染色体易位的复杂先天性心脏病胎儿进行检测,分析其基因型与表型的对应关系,探讨其发病原因.方法采用常规G显带分析胎儿及其父母的染色体核型.应用SNP-array对患儿进行全基因组高分辨扫描,并用多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)进行验证.结果 G显带染色体分析提示胎儿及其父母核型均正常.SNP-array检测显示胎儿4号染色体的短臂存在13.877 Mb的重复(4p16.3-p15.33,48283-13925186),11号染色体长臂存在15.653 Mb的缺失(11q23.3-q25,119291480-134944006).MLPA检测证实了上述变异的存在.结论 4号染色体短臂部分三体(Wolf-Hirschhorn综合征)及11号染色体部分单体(Jacobsen综合征)可能是导致胎儿先天性心脏病的原因,但其父母的染色体核型无助于分析上述染色体异常的成因以及再发风险.SNP-array具有高分辨和高准确度的优点,可为产前遗传学诊断提供更为详细的信息.
목적 응용단핵감산다태성미진렬(single nucleotide polymorphism array,SNP-array)대1례휴대비평형염색체역위적복잡선천성심장병태인진행검측,분석기기인형여표형적대응관계,탐토기발병원인.방법 채용상규G현대분석태인급기부모적염색체핵형.응용SNP-array대환인진행전기인조고분변소묘,병용다중련접탐침확증(multiplex ligation-dependent probe amplification,MLPA)진행험증.결과 G현대염색체분석제시태인급기부모핵형균정상.SNP-array검측현시태인4호염색체적단비존재13.877 Mb적중복(4p16.3-p15.33,48283-13925186),11호염색체장비존재15.653 Mb적결실(11q23.3-q25,119291480-134944006).MLPA검측증실료상술변이적존재.결론 4호염색체단비부분삼체(Wolf-Hirschhorn종합정)급11호염색체부분단체(Jacobsen종합정)가능시도치태인선천성심장병적원인,단기부모적염색체핵형무조우분석상술염색체이상적성인이급재발풍험.SNP-array구유고분변화고준학도적우점,가위산전유전학진단제공경위상세적신식.
Objective To detect chromosomal imbalance in a fetus with complex congenital heart disease,and to correlate the genotype with the phenotype.Methods Routine G-banding was carried out to analyze the karyotypes of the fetus and its parents,and single nucleotide polymorphisms array (SNP-array) was used for delineating fine genomic aberrations.The detected aberrations were confirmed with multiplex ligation-dependent probe amplification (MLPA).Results The fetus and its parents all showed a normal karyotype,while array-SNP has detected a 13.87 Mb duplication at 4p16.3-p15.33 and a 15.65 Mb deletion at 11q23.3-q25 in the fetus.The results were confirmed by the MLPA assay.Conclusion The partial trisomy 4p (Wolf-Hirschhorn syndrome) and partial monosomy 11q (Jacobsen syndrome) probably underlie the complex heart defects detected in the fetus.Analysis of the karyotypes of its parents offered no help for the determination of the aberrant type and recurrent risk.Compared with routine karyotype analysis,aberrant regions can be identified with array-SNP with greater resolution and accuracy.This has provided useful information for prenatal diagnosis and genetic counseling.