摘要
目的探讨染色体平衡易位携带者的临床效应。方法外周血或羊水细胞按常规培养、G显带核型分析；对20例易位核型的家系病例资料分析。结果20个家系中72例染色体核型分析，高危家系人群染色体异常核型检出比冽为52．8％。其中8例产前诊断胎儿核型分析，正常核型4冽，平衡易位核型4例。夫妇一方为染色体携带者自然流产占妊娠总数的50．0％。结论不良生育史的夫妇生育前进行遗传咨询、双方外周血染色体检查，孕中期产前诊断可有效防止染色体病儿的发生。
Objective To examine the clinical effect of carriers of balanced reciprocal translocations. Methods Twenty proposituses with balanced reciprocal translocations and their family numbers were analyzed by G-banding. Results Result of karyotype analysis of seventy two persons from twenty families indicated that thirty eight persons carried genetic disorders ; the abnormal karyotype detection rate of the family group at high risk was 52.78 %. Prenatal diagnosis was carried out for eight persons, four of whom with balanced translocations. If one of the couple was balanced reciprocal tranalocations carrier, the rate of miscarriages accounted for 50. 0 %. Conclusion The next generations have increased risks of miscarriages than their mothers when both of couple are balanced reciprocal translocations carriers. A person should undergo genetic counseling after the birth of a child with birth defects. Karyotype analysis of peripheral blood is indicated.
出处
《中国生育健康杂志》
2012年第1期20-23,共4页
Chinese Journal of Reproductive Health
关键词
染色体
平衡易位
遗传咨询
Chromosome
Balanced reciprocal translocations
Genetic counseling
