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首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review
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Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review

机译：羊膜穿刺术的15号三体拼接：产前诊断，分子遗传学分析和文献复习

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Objective To present prenatal diagnosis of mosaic trisomy 15 at amniocentesis. Materials and methods A 37-year-old woman underwent amniocentesis at 17?weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+15[2]/46,XY[17]. She was referred for repeated amniocentesis at 19?weeks of gestation. Array comparative genomic hybridization (aCGH), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction assays on uncultured amniocytes, conventional cytogenetic analysis and aCGH on cultured amniocytes, and FISH on uncultured urinary cells after birth were applied. Cordocentesis revealed a karyotype of 46,XY. Results At repeated amniocentesis, cultured amniocytes revealed a karyotypes of 46,XY [22 colonies], FISH on uncultured amniocytes revealed 21.2% (22/104?cells) mosaicism for trisomy 15, aCGH on uncultured amniocytes revealed a genomic gain (log2 ratio?=?0.3) in chromosome 15, quantitative fluorescent polymerase chain reaction on uncultured amniocytes excluded uniparental disomy 15 (UPD 15), and aCGH on culture amniocytes revealed no genomic imbalance in chromosome 15. A healthy 3700?g male baby was delivered at 38?weeks of gestation with no phenotypic abnormalities at age 6?months. FISH on uncultured urinary cells at birth and at age 6?months revealed mosaic trisomy 15 levels of 20% (13/65?cells) and 12.2% (6/49?cells), respectively. Conclusion Prenatal diagnosis of mosaic trisomy 15 at amniocentesis should alert doctors about the occurrence of UPD 15 and a clinically significant phenotype. The present case provides evidence for cytogenetic discrepancy between uncultured and cultured amniocytes in mosaic trisomy 15 at amniocentesis. It is possible that the abnormal cell lines of amniocytes with trisomy 15 disappear after long-term cell culture.
机译：目的介绍羊膜腔穿刺术中15号三体综合征的产前诊断。材料和方法一名37岁妇女由于高龄产妇在妊娠17周时接受了羊膜穿刺术。羊膜细胞的细胞遗传学分析显示核型为47，XY，+ 15 [2] / 46，XY [17]。在妊娠19周时，她被要求重复进行羊膜穿刺术。应用阵列比较基因组杂交（aCGH），相间荧光原位杂交（FISH）和定量荧光聚合酶链反应测定法对未培养的羊膜细胞，常规的细胞遗传学分析和培养的羊膜细胞上的aCGH以及未培养的尿液细胞在出生后进行FISH。胃穿刺术揭示了46，XY的核型。结果在重复的羊膜穿刺术中，培养的羊膜细胞显示出46，XY [22个菌落]的核型，未培养的羊膜细胞上的FISH揭示了三体性15的21.2％（22/104？细胞）镶嵌，未培养的羊膜细胞上的CGH显示了基因组增益（log2比？在第15号染色体上= = 0.3），未培养的羊膜细胞上的定量荧光聚合酶链反应不包括单亲二体性15（UPD 15），而在培养的羊膜细胞上的aCGH显示第15号染色体上没有基因组失衡。健康的3700μg男性婴儿在38岁时分娩。妊娠6周〜6个月时未见表型异常。在出生时和6个月大的未培养尿细胞上进行的FISH检查显示，镶嵌三体性15水平分别为20％（13/65？细胞）和12.2％（6/49？细胞）。结论产前羊膜穿刺术15号三体综合征的产前诊断应提醒医生有关UPD 15的发生和具有临床意义的表型。本病例为在羊膜穿刺术中镶嵌三体性15中未培养和培养的羊细胞之间的细胞遗传学差异提供了证据。长期细胞培养后，三体性15的羊膜细胞的异常细胞系可能消失。

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