摘要
目的对1个连续两次发生胎儿1p31.1区拷贝数异常(微缺失和微重复各一次)的家系进行检测和分析,明确其原因,探讨单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNParray)联合G显带染色体核型分析在临床遗传学诊断中的应用价值.方法对同一孕妇的两次妊娠分别进行羊膜腔穿刺和绒毛膜穿刺.采用SNP array对胎儿进行全基因组扫描,对胎儿的双亲进行外周血染色体G显带联合SNP-array分析.结果孕妇第1次妊娠胎儿SNP-array结果为1p31.1(70164686~83474843)×1;第2次妊娠胎儿SNP-array结果为1p31.1(70164686~83479747)×3.胎儿双亲外周血SNP array结果正常,但胎儿母亲染色体G显带结果为46,XX,inv(1)(p31.1p32.1).结论胎儿母亲1号染色体臂内倒位可能是导致胎儿1p31.1区拷贝数连续两次异常的原因.SNP-array联合染色体G显带分析适用于同一染色体区带微缺失微重复的产前诊断,为遗传咨询提供依据.
Objective To analyze a family with recurrent fetal copy number variations(microdeletion and microduplication,respectively)of 1p31.1 using single nucleotide polymorphisrn based array(SNP array)and G banding chromosomal karyotyping.Methods Amniocentesis and chorionic villus sampling were performed for a woman during the two pregnancies.Whole genome SNP array was used to detect genomic imbalance of the fetus.The couple was also subjected to G-banding chromosomal analysis and SNP-array analysis.Results SNP array showed a 1p31.1(7016468683474843)×1 and a 1p31.1(70164686-83479747)×3 in the fetuses during the two pregnancies,respectively.SNP array results of the couple appeared to be normal.The mother of the fetuses had a 46,XX,inv(1)(p31.1p32.1)karyotype.Conclusion The paracentric inversion in chromosome 1 in the gravida probably underlies the recurrent 1p31.1 copy number variations in the fetuses.SNP-array combined with G banding chromosomal analysis are suitable for prenatal diagnosis for recurrent microdeletion and microduplication in the same chromosomal region,and can provide detailed information for genetic counseiing.
作者
孔祥东
张田园
白周现
苏丽沙
王莉
Kong Xiangdong;Zhang Tianyuan;Bai Zhouxian;Su Lisha;Wang Li(Genetic and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第11期1127-1129,共3页
Chinese Journal of Medical Genetics
