本文就1983年～1987年1月,本院产科对部分表型异常,或有可疑遗传病史的新生儿41例进行了染色体检查,鉴定为染色体病者12例。其中Down氏征8例(21—三体型6例,46/47嵌合型,D/G易位各1例),少见染色体病4例,分别为22—三体综合征,qp~+三体综合征,XXXXY综合征,三代平衡易位携带者[祖父、父亲染包体核型为46,XY,t(8∶18),患儿核型为46,XX,t(8∶18),现将4例罕见柒色体病报告如下。 This article from 1983 to January 1987, our hospital obstetrics and gynecology of some phenotypic abnormalities, or suspicious genetic history of 41 newborns were checked for chromosomes, identified as 12 cases of chromosome disease. There were 8 cases of Down’s syndrome (6 cases of 21-trisomy, 46/47 chimera, 1 case of D / G translocation), 4 rare cases of chromosome disease, which were 22 trisomy syndrome, Body syndrome, XXXXY syndrome, three generations of balanced translocation carriers [grandfather, father dying karyotype of 46, XY, t (8:18), children with karyotype 46, XX, t Now 4 rare cases of chromosomal disease reported as follows.