摘要
目的分析胎儿染色体相互易位的临床效应，建立产前诊断的流程和临床咨询的方法。方法应用常规染色体G显带核型分析法检测7901份胎儿染色体。对染色体易位携带者的父母进行核型分析，对新发突变相互易位者进行基因芯片检测以排除微缺失综合征。产前超声监测胎儿至出生，出生1年后随访，对新发相互易位携带者随访至3岁。结果共发现24例胎儿携带相互易位，检出率为0．30％。对其父母的核型进行溯源分析发现遗传型相互易位17例，其中母源9例，父源8例。发现新发生的相互易位突变4例，其中3例父母拒绝染色体检测。对17例遗传型相互易位者产前超声监测和随访结果未见明显异常。4例新发生相互易位者芯片扫描检测未发现基因拷贝数变化，但产前超声监测和随访结果显示3例异常，其中1例涉及x染色体和常染色体相互易位。结论对于产前诊断中发现的染色体相互易位需追溯其亲代来源。基因芯片检测可排除微小缺失或重复，但仍需重视超声监测和生后随访，并根据检测结果综合分析，以提供正确的临床咨询。
Objective To analyze the clinical effect of fetal chromosomal reciprocal translocation in order to optimize procedures for prenatal diagnosis and clinical counseling. Methods Conventional G banding karyotype analysis was performed on 7901 amniotic fluid samples. For fetuses found to have carried a reciprocal translocation, karyotypes of their parents were checked. Fetuses with de novo translocation also underwent microarray analysis to exclude small deletions. Above fetuses were subjected to prenatal ultrasound monitoring till birth and one year follow-up. Those with de novo translocations were followed till 3 years old. Results A total of 24 fetal reciprocal translocations have been identified, which gave a detection rate of 0.30~. Analysis of parental karyotypes has found reciprocal translocations in 17 cases, including 9 maternal and 8 paternal cases. The remaining 4 were of de novo mutations, for which parental examination was refused by three cases. For fetuses with inherited translocations, prenatal ultrasound monitoring and follow-up results were all normal. For those with de novo translocations, although gone chip analysis has failed to detect copy number variations （CNVs）, prenatal ultrasound and follow-up results had found three with abnormal outcome. These included 1 case with reciprocal translocation involving the X chromosome and autosomes. Conclusion For prenatally detected reciprocal chromosome transloeations, the parental origin should be traced. Gone chip analysis can help to exclude small deletions and duplications. However, ultrasound monitoring and follow-up after birth are equally important. Based on comprehensive analysis of the results of combined testing, accurate counseling can be provided.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第5期612-615,共4页
Chinese Journal of Medical Genetics
基金
浙江省卫生厅省部共建项目（WKJ2011-2-019）
浙江省临床检验诊断技术重点科技创新团队（2010R50048）
关键词
染色体相互易位
产前诊断
诊断方法
Reciprocal chromosomal translocation
Prenatal diagnosis
Diagnostic methods
