Clinical consult: developmental delay/fragile X syndrome |
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| Authors: | Wiesner Georgia L Cassidy Suzanne B Grimes Sarah J Matthews Anne L Acheson Louise S |
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| Institution: | Center for Human Genetics, Case Western Reserve University, University Hospitals of Cleveland, 11100 Euclid Avenue, Lakeside 1500, Cleveland, OH 44106, USA. Georgia.Wiesner@uhhs.com |
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| Abstract: | 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. |
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