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

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。...

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Published in国际生殖健康/计划生育杂志 Vol. 33; no. 3; pp. 175 - 177
Main Author 文娟 李浩贤 龙志高 夏艳 夏家辉 梁德生 邬玲仟
Format Journal Article
LanguageChinese
Published 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 2014
Subjects
原位杂交,荧光
多态性,单核苷酸
染色体显带
核仁组成区
核酸杂交
核仁组成区
原位杂交,荧光
多态性,单核苷酸
Nucleic acid hybridization
染色体显带
In situ hybridization,fluorescence
Polymorphism,single nucleotide
Chromosome banding
核酸杂交
Nucleolar organizer region
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ISSN1674-1889

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Summary: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。
Bibliography:WEN Juan, LI Hao-xian, LONG Zhi-gao, XIA Yan, XIA Jia-hui, LIANG De-sheng, WU Ling-qian （State Key Laboratory of Medical Genetics ,Central South University,Hunan Jiahui Genetics Hospital, Changsha 410078, China）
Chromosome banding;Nucleolar organizer region;In situ hybridization,fluorescence;Polymorphism,single nucleotide;Nucleic acid hybridization
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
ISSN:1674-1889