...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry.
【24h】

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry.

机译：产前血清间质重复14q（14q31.3→q32.12）与母体血清生化异常相关的产前诊断和分子细胞遗传学特征。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) in a pregnancy associated with abnormal maternal serum biochemistry. CASE REPORT: A 19-year-old woman underwent amniocentesis in the second trimester because of abnormal maternal serum biochemistry. Her husband was 33 years old. At 16 weeks of gestation, the levels of α-fetoprotein, unconjugated estriol, total β-human chorionic gonadotropin, and inhibin A were 0.8 multiples of median (MoM), 0.84 MoM, 3.06 MoM, and 1.14 MoM, respectively, consistent with a positive trisomy 21 risk of 1/269. Results of an amniocentesis revealed a small de novo interstitial duplication of 14q encompassing 14q31-q32.1. An array comparative genomic hybridization analysis detected a 6.6-Mb duplication at chromosome 14q31.3-q32.12. Results of a fluorescence in situ hybridization analysis showed a direct duplication of interstitial 14q. The karyotype was 46,XY,dup(14) (q31.3q32.12). Level II ultrasound was unremarkable. The parents decided to continue the pregnancy. A 3805-g healthy male baby was delivered at 39 weeks of gestation. When examined at 6 months of age, the neonate was normal in growth and psychomotor development with no apparent phenotypic abnormalities, although long-term follow-ups are required. CONCLUSION: Abnormal maternal serum biochemistry in the second trimester may be a distinctive prenatal feature in pregnancy associated with fetal chromosome 14q duplication.
机译：目的：介绍与母亲血清生化异常相关的妊娠中14q（14q31.3→q32.12）从头间质复制的产前诊断和分子细胞遗传学特征。病例报告：一名19岁妇女由于孕妇血清生化异常而在孕中期进行了羊膜穿刺术。她的丈夫今年33岁。妊娠16周时，甲胎蛋白，未结合的雌三醇，总β-人绒毛膜促性腺激素和抑制素A的水平分别为中位数（MoM）的0.8倍，0.84 MoM，3.06 MoM和1.14 MoM，与阳性三体性21的风险为1/269。羊膜腔穿刺术的结果显示14q有一个小的从头间隙复制，包括14q31-q32.1。阵列比较基因组杂交分析在14q31.3-q32.12染色体上检测到6.6 Mb重复。荧光原位杂交分析结果表明，间质14q直接重复。核型为46，XY，dup（14）（q31.3q32.12）。 II级超声效果不明显。父母决定继续怀孕。妊娠39周时分娩了3805 g的健康男性婴儿。在6个月大时进行检查，尽管需要长期随访，但新生儿的生长和精神运动发育正常，没有明显的表型异常。结论：孕中期孕妇血清生化异常可能是与胎儿14q染色体重复有关的妊娠的独特产前特征。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号