| 引用本文: | 谌燕,张弦,易凤梅,李敏.2q37缺失合并4q部分三体1例及临床基因芯片分析[J].中国临床新医学,0,():-. |
| chenyan.2q37缺失合并4q部分三体1例及临床基因芯片分析[J].中国临床新医学,0,():-. |
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| 摘要: |
| 目的 对一例B超检查发现先心病：单心房、单心室；胎儿左侧胸腔积液（8mm）；胎儿颈背部皮肤增厚，NF：9.1mm的胎儿诊断为2q37缺失合并4q部分三体，进一步明确其遗传物质的来源，并分析患者表型和基因型的关联性。方法 产前诊断羊水细胞染色体核型分析+染色体微阵列（CMA）检测；以及进一步行胎儿父母双方染色体核型及孕妇CMA检测验证胎儿异常染色体的来源。结果 羊膜腔穿刺取羊水行胎儿染色体核型检测：46，XN,der(2)t(2;4) (q37;q28)？CMA检测结果显示：2号染色体q37. 2q 37.3区带存在约7.0 Mb片段微缺失，4号染色体q28.3q35.2区带存在约55.5 Mb片段微重复。行父母验证，胎儿父亲染色体核型正常，母亲染色体为平衡易位。结论 染色体核型+CMA技术对染色体的不平衡变异可以进行更精确的定位，联合胎儿父母验证可确定胎儿不平衡易位的来源，继而对预后和评估再生育风险及产前诊断具有重要临床意义。 |
| 关键词: 染色体核型分析 染色体微阵列分析 2q37缺失 4q部分三体 平衡易位 |
| DOI： |
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| 基金项目:胎儿结构异常与基因组的结构、功能相关性研究 （编号：B2017179） |
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| A case of 2q37 deletion with 4q partial trisomy and its clinical microarray analysis |
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chenyan
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Huaihua maternal and child health care hospital
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| Abstract: |
| Objective to detect a case of congenital heart disease by B-ultrasound: single atrium and single ventricle.Fetal left pleural effusion (8mm);Fetal cervical and dorsal skin thickening, NF: 9.1mm, was diagnosed as 2q37 deletion and 4q partial trisomy , further identifying the source of their genetic material, and analyzing the correlation between patient phenotype and genotype.Methods prenatal diagnosis of amniotic fluid cell chromosome karyotype analysis + chromosome microarray (CMA) detection;Furthermore, the chromosomal karyotypes of both parents and the maternal CMA tests were performed to verify the origin of fetal abnormal chromosomes.Results after amniocentesis, fetal chromosome karyotype was detected: 46, XN,der(2)t(2).(4) q37;q28)?CMA test results showed that there was a microdeletion of about 7.0Mb fragment in the region q37.2q 37.3 on chromosome 2, and a microduplication of about 55.5Mb fragment in the region q28.3q35.2 on chromosome 4.The father's chromosome karyotype was normal and the mother's chromosome was balanced translocation.Conclusion chromosomal karyotype +CMA technique can be used for more accurate localization of chromosomal imbalance variation. Combined with fetal parents' verification, the source of fetal imbalance translocation can be determined, which is of great clinical significance for prognosis, rebirth risk assessment and prenatal diagnosis. |
| Key words: Karyotype analysis Chromosome microarray analysis 2q37 missing Part 4q trisomy Balanced translocation |
