Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review
Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review
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DOI：
10.1016/j.tjog.2015.06.002
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发表时间：
2015-08-01
影响因子：
2.1
通讯作者：
Wang, Wayseen
中科院分区：
文献类型：
--
作者：
Chen, Chih-Ping;Chern, Schu-Rern;Wang, Wayseen
目的：材料和方法：一位37岁的妇女在怀孕17周时，因为高龄产妇进行了胎盘穿刺术。培养的单核细胞的细胞遗传学分析显示核型为47，XY，+15 2]/46，XY[17]。她在妊娠19周时被转诊接受重复子宫内膜穿刺术。应用阵列比较基因组杂交（aCGH）、间期荧光原位杂交（FISH）和定量荧光聚合酶链反应（PCR）技术对未培养尿红细胞进行分析，应用常规细胞遗传学分析和aCGH技术对培养尿红细胞进行分析，应用FISH技术对出生后未培养尿红细胞进行分析。脐带穿刺结果显示核型为46，XY。反复穿刺后，培养的淋巴细胞显示核型为46，XY [22集落]，未培养的淋巴细胞的FISH显示21.2%（22/104细胞）未培养的巨噬细胞上15三体嵌合体，aCGH显示基因组获得（log 2比率= 0.3），对未培养的单核细胞进行定量荧光聚合酶链反应，排除单亲二体性15（UPD 15），和aCGH在培养的单核细胞上显示在15号染色体上没有基因组不平衡。一个健康的3700 g男婴在孕38周分娩，6个月时无表型异常。出生时和6个月龄时未培养尿细胞的FISH显示镶嵌三体15水平分别为20%（13/65细胞）和12.2%（6/49细胞），结论：产前诊断镶嵌三体15在膀胱穿刺术应提醒医生发生UPD 15和临床上有意义的表型。本病例提供的证据表明，未培养的和培养的嵌合体15三体的巨噬细胞之间的细胞遗传学差异，在穿刺。15三体异常细胞系可能在长期培养后消失。版权所有（C）2015，中华民国妇产科医学会.出版社：Elsevier Taiwan LLC All rights reserved.
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. Copyright (C) 2015, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.