8q24.13q24.23微重复病儿1例的临床及遗传学分析

目的 明确1例8q24.13q24.23微重复胎儿的遗传学病因及其来源，并对该胎儿做产前诊断。方法 采集2020年3月厦门大学附属第一医院行无创产前筛查的1对夫妻外周血及胎儿羊水细胞行染色体G显带分析；孕妇外周血行无创产前筛查；胎儿羊水细胞行染色体微阵列分析。结果父亲染色体核型正常，母亲和胎儿染色体核型46,XX,dup(8)(8q24.13q24.23)；孕妇无创产前筛查：8号染色体长臂8q24.13q24.23存在11.3 Mb的重复（chr8:g.126215101-139315100dup）。染色体微阵列分析：arrGRCh37]8q24.13q24.23(126646442-137947833)x3。结论 8q24.13q24.23微重复为偏良性的拷贝数变异（CNV），建议孕妇继续妊娠。

Clinical and genetic analysis of a child with 8q24.13q24.23 microduplication

Objective To clarify the genetic etiology and origin of a case of 8q24.13q24.23 microduplication in a fetus, and to makea prenatal diagnosis of this fetus.Methods The peripheral blood and fetal amniotic fluid cells of one couple who underwent noninva.sive prenatal screening at the First Affiliated Hospital of Xiamen University in March 2020 were collected for chromosome G-bandinganalysis. Noninvasive prenatal screening of pregnant women was performed on peripheral blood. Chromosome microarray analysis of fe.tal amniotic fluid cells was performed. Results Normal paternal karyotype, maternal and fetal karyotypes 46, XX, dup (8)(8q24.13q24.23). Noninvasive prenatal screening of pregnant women: an 11.3 Mb duplication exists on the long arm of chromosome 8,8q24.13 to 8q24.23. (chr8:g.126215101-139315100dup). Chromosome microarray analysis: arrGRCh37]8q24.13q24.23 (126646442-137947833) x3.Conclusion 8q24.13q24.23 microrepeat is a copy number variant (CNV) that is benign side, and the pregnant womanis advised to continue the pregnancy.