摘要
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。
Chromosomal inversion is one of the commonest constructive rearrangement in chromosome abnormalities of them.The Y chromosomal inversion has close relationship to the abortion with some of the carriers having the phenotype abnormality.In order to study the relationship between chromosomal inversion and better birth,the lymphocytes from the peripheral blood and the cells collected from amniotic fluid were studied with chromosomal preparation and cytogenetic banding techniques combining with genetic counseling and follow_up in 3727 cases.As a result,44 chromosomal inversion families and 55 carriers have been found in these cases.The rate of chromosomal inversion is 1.47%. 34.54% carriers of chromosomal inversion have abnormal phenotype,mainly consisting of the abnormalities of sex difference,mental retardation and multiple congenital malformation.Abnormal pregnancies and birth in the autosomal inversion carriers are the main clinical manifestation with the high incidence of early spontaneous abortion(42.86%).The liveborn rate only accounting for 36.73% in all pregnancies of inversion carriers,of them,14.29% of the liveborns has the normal phenotype while 22.44% of the liveborns has abnormal phenotype.9 times of prenatal diagnosis were performed for the 9 families the chromosomal inversion carriers showing that their offspring were all carriers with no finding of any abnormal chromosomal rearrangement fetus.Finally,it could be suggested that chromosomal inversion is one of the commonest constructive rearrangements in chromosome abnormalities.Inv (Y) is related to the abnormal sex difference and development.While inv (g) has close relationship to the abortion with some of the carriers having abnormal phenotype whether it's necessary to perform the prenatal chromosome diagnosis still remain to be further accumulation and sum up.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2002年第5期286-288,共3页
Journal of Clinical Pediatrics
基金
上海市科委资助项目 (编号97JG05020)
