特殊特纳综合征1例孕妇的遗传学分析

《特殊特纳综合征1例孕妇的遗传学分析》由会员上传分享，免费在线阅读，更多相关内容在工程资料-天天文库。

1、特殊特纳综合征1例孕妇的遗传学分析冯暄孟照琰闫有圣郝胜菊张庆华陈雪梁济慈产科摘要：a的通过1例特殊特纳综合征孕妇的多种遗传学检测分析，探讨特纳综合征的临床表型及遗传学特点，为该类遗传咨询和临床治疗提供依据。方法对1例无创DNA产前检测技术(NIPT)检测X染色体异常的孕妇进行遗传学分析，羊水穿刺釆用羊水细胞培养及染色体制备技术及荧光原位杂交(FISH)技术分析胎儿染色体;采用染色体核型分析技术及荧光原位杂交技术分析孕妇外周血及U腔脱落细胞。结果NIPT检测结果显示母体X染色体有缺失;经羊水核型分析，胎儿染色体正常;孕妇外周血染

2、色体核型结果:45，X0;孕妇口腔黏膜脱落细胞FISH结果:47，XXX(65%)/45，X0(23%)/46，XX(12%)。结论将细胞遗传学、分子遗传学以及分子细胞遗传学技术结合使用后能够有效提升特纳综合征诊查的准确性，精准的诊断能够为患有该症患者的遗传咨询以及临床诊治提供参考依据。关键词：特纳综合征;高通量测序技术;口腔黏膜脱落细胞;无创基因产前检测;作者简介：冯暄(1983一)，女，助理研宄员，硕士，主要从事医学遗传学的研究。作者简介：盂照琰，副主任医师。收稿日期:2017-02-09Geneticanalysisof

3、apregnantwomanwithspecialTurner’ssyndromeFENGXuanMENGZhao-yanYANYou-shengHAOSheng-iuZHANGQing-huaCHENXueLIANGJi-ciMedicalHereditvResearchCenter,GansuMaternalandChildHealthCareHospital;DepartmentofObstetrics，GansuMaternalandChildHealthCareHospital;Abstract：ObjectiveT

4、oexploreclinicalmanifestationandgeneticcharactcrisitcsofTurner'ssyndromethroughvariousgenetictestingandanalysisofapregnantwomanwithspecialTurner’ssyndrome,soastoprovidebasisforconsultationandtreatmentofsuchgeneticdisease.MethodsGeneticanalysiswascarriedoutonapregnan

5、twomanwithXchromosomeabnormalitydetectedbynon-invasivcprenataltest(NIPT).Fetalchromosomalanalysiswasimplementedbycultureofamnioticcellcollectedthroughamniocentesis,chromosomepreparationandfluorescenceinsituhybridization(FISH).Maternalperipheralbloodandmouthdesquamat

6、edcel1swereanalyzedbykaryotypeanalysisandFISHanalysis.ResultsNIPTresultsshoweddeletioninmaternalXchromosome.Karyotypeanalysisofamnioticcellshowedthatfetalchromosomewasnormal.Maternalperipheralbloodkaryotypingresultwas45，XO.MaternalmouthdesquamatedcellFISHresultwas47

7、,XXX(65%)/45,XO(23%)/46XX(12%).ConclusionCombinationofcytogenetics,moleculargeneticsandmolecularcytogenetictechnologycaneffectivelyimprovethediagnosticaccuracyofTurner’ssyndrome,andaccuratediagnosisprovidesreferenceforgeneticcounselingandclinicaltreatmentofthisdisea

8、se.Keyword：Turner’ssyndrome;highthroughputsequencing;mouthdesquamatedcell;non-invasiveprenataltest(NIPT);Received：2017-02-09特纳综合征乂称先天性卵巢发育