Terracciano Alessandra, Chiurazzi Pietro, Neri Giovanni
Institute of Medical Genetics of Catholic University, Rome, Italy.
Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. doi: 10.1002/ajmg.c.30062.
Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research.
脆性X综合征是与智力迟钝相关的最常见的遗传性疾病，由FMR1基因内不稳定的CGG重复序列扩增引起。虽然生长过度不是这种疾病的主要特征，但脆性X综合征通常被纳入智力迟钝和生长过度儿童的鉴别诊断中。本综述重点介绍了脆性X研究领域的最新进展。
