Garcia F P, Hsu L Y, Fox H, Gribetz D
J Med Genet. 1975 Mar;12(1):104-5. doi: 10.1136/jmg.12.1.104.
Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi syndrome, cytogenetic studies should be considered in all patients with clinical diagnosis of Rubinstein-Taybi syndrome.
一名鼻子突出、拇指和第一趾宽大的婴儿最初被诊断为鲁宾斯坦-泰比综合征。然而，由于存在其他异常，如耳朵低位、畸形，眼睛反蒙古样倾斜，虹膜缺损和腭裂，因此进行了细胞遗传学研究，确诊为13三体综合征。由于13三体综合征偶尔可能酷似鲁宾斯坦-泰比综合征，所以对于所有临床诊断为鲁宾斯坦-泰比综合征的患者都应考虑进行细胞遗传学研究。
