人类染色体异常中,由于生殖细胞减数分裂的误差而造成数目异常以及因着丝粒融合而形成的罗伯逊易位是最为常见的类型,但上述两种异常同时存在于一个个体中是较为罕见的,本文报导一例Klinefelter氏综合征同时携带13/14号染色体罗伯逊易位病例,其核型为46xxy,t(13;14)(13qter→cen→14qter)。(见图1) Among the human chromosomal abnormalities, Robertsonian translocation due to errors in germ cell meiosis is the most common type due to the number anomaly and Rooseverson translocation due to centromere fusion, but it is relatively rare for both of these anomalies to coexist in one individual , A case of Klinefelter’s syndrome carrying both Robertsonian translocations of chromosome 13/14 and its karyotype 46xxy, t (13; 14) (13qter → cen → 14qter) is reported here. (see picture 1)