平衡易位携带者的遗传性分析

A genetic analysis of balanced translocation carrier

本文通过对１例源自平衡易位携带者母亲、核型为４６，ＸＸ，－１，＋ｄｅｒ（１），ｔ（１；６）（１ｐｔｅｒ→ｌｑ４４：：６ｐ２２．２→６ｐｔｅｒ）ｍａｔ的６ｐ部分三体综合征患儿家系进行细胞遗传学研究，并与同类病例比较分析，结合遗传咨询门诊工作的体会进行讨论，提出亲代携带者的易位片段愈长，娩出患儿的风险愈小；易位片段愈短，娩出患儿的风险愈大；认为理论推算结合家系资料或文献资料的修正才能推论出平衡易位携带者的后代复发风险。

This paper did a cytogenetics study on a baby patient of 6p partial trisomy syndrome,whose mother is balanced translocation carrier with the kaeyotype 46,XX,1,+der(1)t(1;6)(1pter→1944 6p22.2 →6pter)mat.The results were comparatirely analysed with the case of the same type.Furtherly,combining the clinical genetic counselling,the authors held a discussion.The conclusions are as follows:the longer the translocation slice of direct family carrier is,the lower dangerous the confined baby patient;the shorter the translocation slice is,the higher dangerous the confined baby patient;it's only by combining theoretical caculation with the correction of family or documentary information that descendent recurrence risk of balanced translocation carrier can be inferred.