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Chih‐Ping Chen
Mackay Memorial Hospital
58H指数
1.2K论文数
1.8W被引数
收录论文 183
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Low-level mosaic trisomy 9 at amniocentesis in a pregnancy with a positive non-invasive prenatal testing result for trisomy 9 intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line and a favorable fetal outcome羊膜穿刺术中发现低水平镶嵌型三体9，该妊娠非侵入性产前检测结果为三体9阳性，伴有宫内生长受限，培养羊水细胞与未培养羊水细胞之间存在细胞遗传学差异，围产期三体9细胞系逐渐减少，且胎儿结局良好。.png)
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收藏High-level mosaic trisomy 9 at amniocentesis in a pregnancy with intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line and a favorable fetal outcome产前检查中发现一例伴有宫内生长受限的妊娠，其羊水细胞存在高比例的9号染色体嵌合三体，培养羊水细胞与未培养羊水细胞之间存在细胞遗传学差异，围产期9号三体细胞系逐渐减少，且胎儿结局良好。OAAI
OAAI分享收藏High-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, a positive non-invasive prenatal testing for trisomy 9, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line, a heterozygous missense mutation of the PIEZO2 gene and an adverse fetal outcome产前诊断中发现的9号染色体高水平嵌合三体，伴随宫内生长受限，无创产前检测显示9号染色体三体阳性，培养羊水细胞与未培养羊水细胞之间的细胞遗传学差异，围产期9号染色体三体细胞系进行性减少，PIEZO2基因杂合错义突变及不良胎儿结局。OAAI
OAAI分享收藏High-level mosaic trisomy 9 at amniocentesis in a pregnancy with a positive non-invasive prenatal testing result for trisomy 9, intrauterine growth restriction, fetal structural abnormality, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, maternal uniparental disomy 9, a normal karyotype at birth, perinatal progressive decrease of the trisomy 9 cell line, concomitant heterozygous mutations of POLG2 and DCC and an adverse fetal outcome羊膜穿刺术中发现高水平嵌合体三体性9，该妊娠的非侵入性产前检测结果为三体性9阳性，伴有宫内生长受限、胎儿结构异常、培养羊水细胞与未培养羊水细胞间的细胞遗传学差异、母体单亲二倍体9、出生时核型正常、围产期三体性9细胞系进行性减少、同时存在POLG2和DCC的杂合突变以及不良胎儿结局。OAAI
OAAI分享收藏Prenatal diagnosis of a familial heterozygous pathogenic variant in the PTPN11 gene (c.1510A>G, p.M504V) in a fetus with increased nuchal translucency and pleural effusion and a mother carrier with atypical Noonan syndrome对一个具有增厚颈后透明层和胸腔积液的胎儿进行产前诊断，发现其携带家族性PTPN11基因的杂合致病性变异（c.1510A>G，p.M504V），其母亲为携带者，且患有非典型Noonan综合征。OAAI
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