1969年,Labs在一些男性智力低下患者及其亲属中首次发现X染色体长臂末端具有“随体和点细丝”状结构,以后被证实为脆性部位。近年来国内已有报导,但为数不多。本文报告一例脆性X染色体综合征患儿的诊断和治疗。病例摘要 In 1969, Labs found for the first time in some male patients with mental retardation and their relatives that the X chromosome long arm end has a “satellite and filament-like” structure, which later proved to be a brittle site. In recent years, there have been reports in China, but not many. This article reports a case of Fragile X syndrome in children with diagnosis and treatment. Case summary