Rubinstein Taybi〔R-T〕综合征主要特征为智力低下、生长迟缓、粗大的拇指和第一足趾、睑裂斜向下、鹰钩鼻和高拱腭。很少有家族性发生,遗传方式尚未确定。1963年Rubinstein Taybi报道7例,1969年Rubinstein复习114例提出此综合征的特征。此征的特殊表型使一些学者疑有染色体改变。本文作者对8例R-T综合征患者取静脉血标本,对前中期染色体用高分辩G显带分析,每例观察2～4个完整核型,以确定是否伴有染色体改变。 Rubinstein Taybi syndrome is characterized by mental retardation, growth retardation, gross thumb and first toe, oblique palpebral fissure, hook nose, and high arch palate. Few familial occurrence, genetic means has not been determined. Seven cases were reported by Rubinstein Taybi in 1963 and 114 cases by Rubinstein in 1969. The special phenotype of this sign makes some scholars suspected of chromosomal changes. In this study, 8 patients with R-T syndrome were treated with venous blood samples. High-resolution G-banding analysis of the early and mid-stage chromosomes was performed. Two to four complete karyotypes were observed in each case to determine whether there was a chromosomal alteration.