嵌合型13三体不孕症1例的遗传学诊断  

Genetic analysis of an infertility patient with mosaic trisomy 13

作　　者：王曼卿 于富海 郭健颖 闫一芳 田浩 任妲妮[1,2,3,4,5] WANG Manqing;YU Fuhai;GUO Jianying;YAN Yifang;TIAN Hao;REN Dani(Center for Reproductive Medicine,Department of Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China;State Key Laboratory of Female Fertility Promotion,Beijing 100191,China;National Clinical Research Center for Obstetrics and Gynecology(Peking University Third Hospital),Beijing 100191,China;Key Laboratory of Assisted Reproduction(Peking University),Ministry of Education,Beijing 100191,China;Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology,Beijing 100191,China)

机构地区：[1]北京大学第三医院妇产科生殖医学中心,北京100191 [2]女性生育力促进全国重点实验室,北京100191 [3]国家妇产疾病临床医学研究中心(北京大学第三医院),北京100191 [4]辅助生殖教育部重点实验室(北京大学),北京100191 [5]生殖内分泌与辅助生殖技术重点实验室,北京100191

出　　处：《中国优生与遗传杂志》2023年第11期2307-2311,共5页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金资助项目(32100647)。

摘　　要：目的对1例嵌合型13三体不孕症患者进行临床及遗传学分析,总结嵌合型13三体患者的症状及预后,并对该类疾病患者的遗传咨询及产前诊断做出指导。方法抽取嵌合型13三体不孕症患者的外周血,进行染色体核型分析和荧光原位杂交(FISH)检测。结果患者外周血淋巴细胞染色体核型结果为mos46,XX,+13,der(13;13)(q10;q10)[18]/46,XX,del(13)(p12)[82],嵌合比例为18%;FISH检测结果为ish 13q34(D13S327×2)[87]/13q34(D13S327×3)[13],嵌合比例为13%。结论低比例嵌合型13三体患者能够产生可受精的生殖细胞,具备一定的生育能力,辅助生殖应关注其合子倍型。Objective To analysis the clinical data and genetic testing results of an infertility patient with mosaic trisomy 13,and to provide guidance for genetic counseling and prenatal diagnosis of patients with this disorder by summarizing the phenotypes and outcomes of the reported cases.Methods Detect the peripheral blood samples from an infertility patient with mosaic trisomy 13 by karyotype analysis and fluorescence in situ hybridization(FISH).Results The karyotype of peripheral blood is mos 46,XX,+13,der(13;13)(q10;q10)[18]/46,XX,del(13)(p12)[82],revealed mosaicism(18%)of trisomy 13.FISH result is ish 13q34(D13S327×2)[87]/13q34(D13S327×3)[13],confirmed the presence of mosaicism(13%)for trisomy 13.Conclusion Low-level mosaic trisomy 13 patients can produce fertilizable germ cells.Assisted reproduction should pay attention to the ploidy of their zygotes.

关 键 词：嵌合体 遗传咨询 辅助生殖 产前诊断 

分 类 号：R711.6[医药卫生—妇产科学] R440[医药卫生—临床医学]