75例先天愚型儿的染色体核型分析

THE KARYOTYPE STUDY OF CHROMOSOME IN 75 CASES OF DOWNS SYNDROME

本文对75例先天愚型儿的外周血进行了染色体分析。G 显带结果表明,标准型、易位型、嵌合型21三体分别为88.0%、6.7%和5.3%。5例易位型21三体中,4例为罗伯逊易位(14/21、22/21、21/21),其中1例为一罕见的t(5;17)(P15;q11)平衡易位合并21三体,经鉴定属世界首报核型。

This article reports the chromosome study on the peripheral blood in 75 cases of Down's syndrome Showed that the standard,translocation,and Mosaic-ism 21 trisomy were 88.0%, 6.7%, and 5.3% respectiuely 4 eases of 5 translocat-ion 21 trisomy were Robertson's Syndrome.The resuts of G band analysis translo-cation,another case was t(5;17)(P15;ql1)balanced translocation with 21trisomy ihis one case was identified first karyotype of the word