染色体检查,在对异常生育史,智力障碍,多发畸形等夫妇中仍是其他方法不可替代的检测手段。2014年,在检出的异常染色体中,有三家系中一患儿为衍生染色体,现对其临床表现进行分析。1病例家系1,先证者,7天,先天性心脏病,手畸形,上颚弓高尖,外院疑18-三体综合征要求检查,其染色体核型为:46,XY,der(4)t(4;7)(q33;q22)mat,后做家系其父染色体核型为:46,XY,t(4;7)(q33;q22)※,其母孕2 Chromosome examination, in the abnormal birth history, mental retardation, multiple deformities and other couples is still an irreplaceable means of detection of other methods. In 2014, out of the three abnormal chromosomes detected, one of the three pedigrees was a derivative chromosome and its clinical manifestations were analyzed. 1 cases of family 1, proband, 7 days, congenital heart disease, hand deformity, the tip of the arch of the upper jaw, outside the hospital suspected 18-trisomy syndrome, check its chromosome karyotype: 46, XY, der (4) t (4; 7) (q33; q22) mat, the father of the pedigree was followed by chromosome 46: XY, t