国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 175-177.

• 论著 • 上一篇    下一篇

综合采用多种遗传学技术纠正一例珍贵胎儿的产前诊断错误

文娟，李浩贤，龙志高，夏艳，夏家辉，梁德生，邬玲仟   

  1. 410078 长沙，中南大学医学遗传学国家重点实验室，湖南家辉遗传专科医院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 邬玲仟

Correct Errors in the Prenatal Diagnosis Using Combined Genetic Techniques: A Case Report

WEN Juan，LI Hao-xian，LONG Zhi-gao，XIA Yan，XIA Jia-hui，LIANG De-sheng，WU Ling-qian   

  1. State Key Laboratory of Medical Genetics，Central South University，Hunan Jiahui Genetics Hospital，Changsha 410078，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: WU Ling-qian

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摘要： 目的：对外院染色体G显带检测结果疑为22号同源染色体易位的妊娠妇女及其22号染色体长臂部分三体胎儿进一步确诊。方法：对该名妇女及其胎儿行高分辨G显带、N显带、荧光原位杂交（FISH）检测；对其父母行高分辨G显带、N显带检测。结果：妊娠妇女的核型为46，XX，t（11；22）（q25；q13），22ps+。22ps+遗传自其母亲，属正常变异；胎儿遗传了其母亲的22ps+染色体和正常的11号染色体，核型无异常。结论：综合采用多种遗传学技术，对家系相关成员进行检测，可增强细胞遗传学检测结果的可靠性，避免误诊。

关键词: 染色体显带, 核仁组成区, 原位杂交, 荧光, 多态性, 单核苷酸, 核酸杂交

Abstract: Objective：To verify the maternal balanced reciprocal translocation t（22；22） in a pregnant woman and the partial trisomy 22q in her fetus, which detected by G banding in a local hospital, using the combined genetic techniques. Methods：G-banding， N-banding and FISH were performed in the pregnant woman and her fetus，and high-resolution G-banding and N-banding in parents of the pregnant woman. Results：Inherited from her mother，the pregnant woman had the karyotype of 46，XX，t（11；22）（q25；q13），22ps+. 22ps+ which was obviously a balanced reciprocal translocation with a pair of 22ps+ polymorphisms. A 22ps+ and a normal chromosome 11 in fetus were found to transmit from the pregnant woman，leading to a balanced karyotype in the fetus. Conclusions：The comprehensive analysis by using combined genetic techniques should be performed in fetus and family members to prevent errors in prenatal diagnosis.

Key words: Chromosome banding, Nucleolar organizer region, In situ hybridization, fluorescence, Polymorphism, single nucleotide, Nucleic acid hybridization