Wiesner Georgia L, Cassidy Suzanne B, Grimes Sarah J, Matthews Anne L, Acheson Louise S
Center for Human Genetics, Case Western Reserve University, University Hospitals of Cleveland, 11100 Euclid Avenue, Lakeside 1500, Cleveland, OH 44106, USA.
Prim Care. 2004 Sep;31(3):621-5, x. doi: 10.1016/j.pop.2004.04.008.
Fragile X syndrome is an X-linked disorder characterized primarily by speech delay and moderate mental retardation. The incidence of fragile X syndrome is estimated at 1/4000-1/6000 males and half that for females. This article presents a case study of fragile X syndrome, describing the genetics and inheritance, disease characteristics,natural history, diagnosis, differential diagnosis, and management.
脆性X综合征是一种X连锁疾病，主要特征为语言发育迟缓及中度智力障碍。脆性X综合征的发病率估计为男性1/4000 - 1/6000，女性发病率为男性的一半。本文介绍了一个脆性X综合征的病例研究，描述了其遗传学与遗传方式、疾病特征、自然病程、诊断、鉴别诊断及治疗。
Zotero 插件