22三体综合征是一种较少见的常染色体疾病。自从1971年Hsu等用同位素标记法首次鉴定22三体以来,国外文献报导的22三体综合征在20例以上,国内马军和程在玉1982年各报告一例,最近我室发现一例,其母亲核型为46XX/47,XX+14,现结合复习文献,并略加讨论。病例报告汤×,女,1 4/12岁,系第一胎足月顺产,不能坐及站,不会叫人,不认识亲人,母亲带其来我科遗传咨询门诊就诊。查体:方头、塌鼻梁、眼距宽、下斜眼 Trisomy 22 is a less common autosomal disorder. Since the identification of 22 trisomy by Hsu and other isotopic markers for the first time in 1971, there are more than 20 cases of trisomy 22 reported in foreign literature, one case was reported by Ma Jun and Cheng Zaoyu in 1982, and one case was found recently in my room. Type 46XX / 47, XX +14, are combined with the review of the literature, and a little discussion. Case report Soup ×, female, 1 4/12 years old, the first full-term fetal abortion, can not sit and stand, will not call people, do not know their loved ones, her mother brought her department genetic counseling clinic. Physical examination: square head, collapse nose bridge, wide eyes, under the eyes