Vuust Jens, Larsen Lars Allan, Grønskov Karen, Nørgaard-Pedersen Bent, Brøndum-Nielsen Karen
Statens Serum Institut, Klinisk Biokemisk Afdeling, Københavns Universitet, Wilhelm Johannsen Center for Funktionel Genomforskning, København S.
Ugeskr Laeger. 2006 Oct 23;168(43):3704-9.
Fragile X syndrome (FXS) is the most prevalent cause of inherited mental retardation, and calculations show that there are approximately 700 non-diagnosed cases in Denmark. Since the disease is severe, screening for FXS should be considered in order to improve genetic counselling. International experience indicates that efforts should initially be on active case finding among persons with learning difficulties and subsequently on cascade screening to identify carriers. Prenatal screening programmes may be an option when reliable high-throughput diagnostic methods are available.
脆性X综合征（FXS）是遗传性智力迟钝最常见的病因，据计算丹麦约有700例未确诊病例。由于该疾病较为严重，应考虑对脆性X综合征进行筛查，以改善遗传咨询。国际经验表明，最初应努力在学习困难者中主动发现病例，随后进行级联筛查以识别携带者。当有可靠的高通量诊断方法时，产前筛查计划可能是一种选择。
