染色体相互易位携带者的性别和易位片段长度对生育的影响

目的　探讨染色体相互易位携带者的性别和易位片段长度与生育的关系 ,为遗传咨询提供参考。　方法　收集相互易位核型 714例 ,综合分析涉及染色体不同部位的染色体异常和易位携带者性别对妊娠结局的影响。　结果　相互易位携带者妊娠结局以孕早期流产为主 ;随着易位片段增长 ,孕早期流产的比例增加 ,而生育染色体异常后代的风险减小 ;女性易位携带者较男性易位携带者易生育染色体异常后代 ,而男性易位携带者易出现不同程度不育。　结论　为易位携带者进行遗传咨询和生育风险估计时 ,要考虑易位的类型、易位片段的长度、已有的生育史和易位携带者的性别。

The Effect of Sex and the Segment Size of the Chromosome Translocation Carriers on the Pregnancy Outcome

Objective To study the relationship between pregnancy outcome with the sex and the segment size of the chromosome translocation carriers. Methods Data of pregnancy outcome of 714 reciprocal translocation carriers were collected. The effect of the type and segment size of translocation as well as the sex of the carriers on the pregnancy outcome was analyzed. Results Spontaneous abortion in the first trimester was the main pregnancy outcome. The larger the translocation segments, the more the first trimester spontaneous abortions and the less chromosome abnormal offspring occurred. The sex of carriers and the segment size of translocation were related to the pregnancy outcome. Female carriers have an increased risk of chromosome abnormal offsprings than male ones, but male carriers have a higher probability of infertility. Conclusion Classification of sex as well as the segment size of chromosome translocation carriers and obstetric history should be considered during genetic counseling.