胎儿9号染色体次缢痕G显带插入深带1例

A case of fetal chromosome 9 with extra euchromatic G-band in qh region

报道1例胎儿9号染色体次缢痕G显带插入深带的产前诊断病例。胎儿母亲孕18周时行羊水穿刺术,羊水染色体G显带检查见9号染色体次缢痕插入深带,遂补充染色体C显带检查和染色体微阵列分析(CMA),并完善胎儿父母外周血染色体核型检查。C显带可见9号染色体次缢痕深染区有浅带插入,CMA未发现染色体片段有拷贝数异常,为此考虑为染色体异态性,核型为46,XY,der(9)ins(9;?)(q12;?)。家系分析母亲9号染色体次缢痕G显带同样插入深带,该异态性遗传自母亲。目前,胎儿已于39周时分娩,随访婴儿发育良好,暂未发现异常。

This article reports a case of fetal chromosome 9 with extra euchromatic G-band in qh region.The mother of the fetal underwent amniocentesis at 18 weeks of gestation,and then chromosome karyotype analysis of fetal amniotic fluid cells were performed,it showed that the fetal chromosome 9 with extra euchromatic G-band in qh region.We added fetal chromosome C-banded karyotyping and chromosome microarray analysis(CMA),and the karyotype analysis of fetal parents'peripheral blood was replenished.The fetal chromosome C-banded karyotyping showed that there was an shallow band in-serted in the deep staining area in qh region of the fetal chromosome 9,but CMA did not find abnormal copy number of chromosome fragments,which was considered as heteromorphism,and the karyotype result was 46,XY,der(9)ins(9;?)(q12;?).Family analysis showed that the mother’s chromosome 9 was also inserted into the deep band in qh region.The heteromor-phism was inherited from mother.At present,the fetus has delivered at 39 weeks and is well developed.No abnormality has been found temporarily.