Mornet E, Simon-Bouy B
Centre d'études de biologie prénatale SESEP université de Versailles-Saint-Quentin, Versailles, France.
Arch Pediatr. 1996 Aug;3(8):814-21. doi: 10.1016/0929-693x(96)82167-1.
Fragile X syndrome is the most common cause of inherited mental retardation. Since the identification of the mutation, a Cytosine-Guanine-Guanine repeat in the Fragile X Mental Retardation (FMR1) gene, the genetic counselling and the diagnosis of the disease have been dramatically improved. The nature of the mutation and its size must be integrated in the calculation of the risk of transmission of mental retardation and in the genetic counselling in the family. Out of 245 patients affected with mental retardation referred to our laboratory, we found 37 (15%) fragile X patients, allowing to screen for the mutation in the family and to propose prenatal diagnosis in carrier females.
脆性X综合征是遗传性智力迟钝最常见的病因。自从发现脆性X智力迟钝1（FMR1）基因中的胞嘧啶-鸟嘌呤-鸟嘌呤重复突变以来，该疾病的遗传咨询和诊断有了显著改善。在计算智力迟钝的遗传风险以及对家庭进行遗传咨询时，必须综合考虑突变的性质及其大小。在转诊到我们实验室的245例智力迟钝患者中，我们发现了37例（15%）脆性X患者，从而能够对其家族进行突变筛查，并为携带突变的女性提供产前诊断。
