摘要
目的 应用单核苷酸多态性微阵列技术(single nucleotide polymorphisms array,SNP array)对1例多发畸形的胎儿进行全基因组拷贝数变异(copy number variations,CNVs)筛查.方法 对羊水样本进行常规G显带染色体核型分析及全基因组CNVs检测,同时检测其父母以确定胎儿异常染色体的来源.结果 SNP array检测提示胎儿染色体17q24.2-q25.3区存在约16 Mb较大片段的重复,其羊水染色体核型为46,XY,der(21),t(17;21)(q23;p12),母亲的核型未见异常,父亲的核型为46,XY,t(17;21)(q23;p12).结论 隐匿的17q24.2-q25.3大片段重复可能是胎儿发生多发畸形的原因.携带平衡易位的先天缺陷胎儿可能存在染色体断裂点区域之外的基因组SNPs.SNP array技术可作为常规G显带核型分析的有益补充.
Objective To use single nucleotide polymorphism microarray(SNP array)to screen whole genome copy number variations(CNVs)in a fetus with multiple malformation.Methods Amniotic fluid sample was subjected to routine G banding chromosomal analysis and CNVs detection,and its parents were tested to determine the origin of fetal chromosomal aberration.Results SNP assay has detected a large fragment repetition of about 16 Mb in the 17q24.2-q25.3 region in the fetus.The karyotype of amniotic fluid was 46,XY,der(21),t(17;21)(q23;p12).The karyotype of the mother was normal,while its father has akaryotypeof46,XY,t(17;21)(q23;p12).Conclusion The large fragment of 17q24.2-q25.3 probably underlies the multiple fetal malformation.Abnormal fetuses carrying apparently balanced chromosomal translocations may harbor CNVs outside the breakpoint regions involved in the rearrangements.SNP array has provided a useful supplement for the conventional G banding karyotyping analysis.
作者
赵丽娟
万波
Zhao Lijuan;Wan Bo(Fetal Medicine Center,Southern Medical University,Guangzhou,Guangdong 510630,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第5期488-490,共3页
Chinese Journal of Medical Genetics
关键词
单核苷酸多态性微阵列
拷贝数变异
平衡易位
产前诊断
Single nucleotide polymorphism microarray
Copy number variation
Balanced translocation
Prenatal diagnosis
