【摘要】 目的对1例孕17周超声发现室间隔缺损,主动脉与肺动脉内径接近,单脐动脉的胎儿进行分子细胞遗传学分析。方法对羊水细胞进行G显带染色体核型分析和染色体微阵列分析,父母外周血进行G显带染色体核型分析。结果 G显带分析提示胎儿核型为45,XY,-13[45]/46,XY,r(13)(p11q34)[35],父母核型均正常,胎儿染色体异常为新发突变。CMA检测胎儿为13号染色体长臂q32.3q34存在13.6Mb缺失,为致病性CNVs,13号染色体长臂q31.3q32.3存在7.2Mb重复,为致病性未明CNVs。不同检测方法嵌合情况存在差异。结论本例13单体,13环状染色体嵌合体胎儿产前超声诊断表现为心血管发育畸形,相关发育基因的缺失和重复可能是表型变异的主要原因。更多还原

【Abstract】 Objective To explore the genetic basis for a fetus with cardiovascular abnormalities at 17 weeks of gestation. Methods G-banding chromosomal karyotyping and chromosomal microarray anaysis(CMA) were performed on amniotic fluid cells; G-banding chromosomal karyotyping on peripheral blood sample from the parents. Results The fetus was ascertained as 45, XY,-13 [45]/46, XY, r(13)(p11 q34) [35],the parents’ karyotypes were normal,indicating that this case was a de novo variation. A 13 q32.3 q34 deletion was identified by CMA with a size of 13.6 Mb,which was the pathogenic CNVs,and 7.2 Mb duplication in q31.3 q32.3 of chromosome 13,which was with uncertain significance. There were chimerism discrepancy between different detection methods. Conclusion Fetus with mosaic monosomy 13 and r(13) may present cardiovascular malformation on prenatal ultrasound.The deletion and duplication of related developmental genes may be the main reason for phenotypic variation.更多还原