CAJ | 학술논문

目的：通过对反复发生妊娠丢失的夫妇进行染色体核型分析，探讨染色体畸变（如相互易位、罗伯逊易位、倒位等）及染色体多态性与反复妊娠丢失的关系，观察遗传因素在反复妊娠丢失中的重要性。方法对1994至2010年间因反复妊娠丢失而就诊的1949对夫妇进行外周血淋巴细胞培养，常规染色体制片，行G显带处理，必要时做C显带，显微镜下进行染色体核型分析。结果检出染色体核型异常者113例，检出率为5．80％（113/1949），其中数目异常者10例（0．51％），结构异常者103例（5．28％）。染色体结构异常中相互易位检出53例，罗伯逊易位检出20例，倒位检出24例，缺失检出5例，等臂染色体检出1例。染色体遗传多态性者检出73例，检出率为3．75％（73/1949）。结论染色体异常（如染色体易位、倒位、缺失等）与反复妊娠丢失密切相关，对遗传咨询者进行染色体分析有助于明确病因，为产前诊断及优生优育提供科学依据。
목적：통과대반복발생임신주실적부부진행염색체핵형분석，탐토염색체기변（여상호역위、라백손역위、도위등）급염색체다태성여반복임신주실적관계，관찰유전인소재반복임신주실중적중요성。방법대1994지2010년간인반복임신주실이취진적1949대부부진행외주혈림파세포배양，상규염색체제편，행G현대처리，필요시주C현대，현미경하진행염색체핵형분석。결과검출염색체핵형이상자113례，검출솔위5．80％（113/1949），기중수목이상자10례（0．51％），결구이상자103례（5．28％）。염색체결구이상중상호역위검출53례，라백손역위검출20례，도위검출24례，결실검출5례，등비염색체검출1례。염색체유전다태성자검출73례，검출솔위3．75％（73/1949）。결론염색체이상（여염색체역위、도위、결실등）여반복임신주실밀절상관，대유전자순자진행염색체분석유조우명학병인，위산전진단급우생우육제공과학의거。
Objective To investigate the frequency of chromosomal abnormalities in couples with recurrent fetal wastage ( RFW) and assess the relevance between genetic factors and RFW , and to explore the importance of genetic factors in RFW .Methods From 1994 to 2010 the cytogenetic study was conducted in 1 949 couples (3 898 patients) who had RFW.Their peripheral blood lymphocytes were cultured . Chromosome karyotype analysis was conducted .Results Of 1 949 couples, chromosomal abnormalities were found in 113(5.80%,113/1 949) cases, including 10 (0.51%) cases of numerical chromosomal abnormalities and 103 (5.28%) cases of structural abnormalities . Of the cases of structural abnormalities , 53 cases were found with reciprocal translocations , 20 with robertsonian translocation , 24 with inversions, 5 with chromosomal deletion and 1 with isochromosome.Polymorphisms of heterochromatin were found in 73 cases, with the detection rate of 3.75%(73/1 949).Conclusion Chromosomal abnormality is closely related with RFW .Chromosome analysis for genetic counseling is helpful in finding causes and in providing scientific basis for antenatal diagnosis and good birth .