CAJ | 학술논문

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。
목적：대외원염색체G현대검측결과의위22호동원염색체역위적임신부녀급기22호염색체장비부분삼체태인진일보학진。방법：대해명부녀급기태인행고분변G현대、N현대、형광원위잡교（FISH）검측；대기부모행고분변G현대、N현대검측。결과：임신부녀적핵형위46，XX，t （11；22）（q25；q13），22ps+。22ps+유전자기모친，속정상변이；태인유전료기모친적22ps+염색체화정상적11호염색체，핵형무이상。결론：종합채용다충유전학기술，대가계상관성원진행검측，가증강세포유전학검측결과적가고성，피면오진。
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.