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为研究染色体倒位与优生的关系 ,应用外周血淋巴细胞、羊水细胞进行染色体制备和显带 ,并结合遗传咨询和跟踪随访。结果在3727例外周血染色体检查对象中 ,发现44个染色体倒位家系55个染色体倒位携带者 ,检出率为1.47 %。34.54 %倒位携带者有异常表型 ,主要为性分化异常、智能低下、多发畸形。不良孕产是常染色体倒位携带者的主要临床表现 ,其早期自发性流产率为42.86 % ,活产儿占妊娠总数的36.73 % ,其中表型正常14.29 % ,表型异常22.44 %。对9个染色体倒位携带者家系实施产前诊断 ,发现后代均为携带者 ,未见重组染色体异常胎儿发生。提示染色体倒位是常见的染色体结构重排 ,其中Y染色体倒位inv(Y)与性分化、性发育异常有关 ,inv(9)与流产关系密切 ,部分携带者有表型异常。对染色体倒位携带者可通过遗传咨询 ,进行孕前、孕期、产前、产后指导和干预。但对倒位携带者进行染色体病产前诊断是否有必要 ,尚待进一步积累和总结。
To study the relationship between chromosomal inversion and eugenics, peripheral blood lymphocytes and amniotic fluid cells were used for chromosome preparation and banding, combined with genetic counseling and follow-up. Results In 3727 cases of peripheral blood chromosome examination, 55 chromosomal inversions were found in 44 chromosomal inversion families with a detection rate of 1.47%. 34.54% of the transversal carriers had abnormal phenotypes, mainly of abnormal sexual differentiation, mental retardation and multiple deformities. Abortion is the main clinical manifestations of autosomal inversion carriers, the early spontaneous abortion rate was 42.86%, the total number of live births accounted for 36.73% of pregnancies, of which the normal phenotype 14.29%, phenotypic abnormalities 22.44%. Prenatal diagnosis of pedigrees of 9 chromosome inversion carriers found that offspring were carriers, no recombinant fetal chromosomal abnormalities occurred. Tip chromosome inversion is a common chromosomal rearrangement, in which the Y chromosome inversion inv (Y) and sexual differentiation, sexual dysfunction, inv (9) and abortion closely related to part of the carriers have phenotypic abnormalities. Inverted carriers of chromosomes through genetic counseling, pre-pregnancy, prenatal, post-natal guidance and intervention. However, whether the prenatal diagnosis of chromosomal disease is necessary for the transversal carriers remains to be further accumulated and summarized.