Clinical consult: developmental delay/fragile X syndrome.

Wiesner, Georgia L; Cassidy, Suzanne B; Grimes, Sarah J; Matthews, Anne L; Acheson, Louise S · Prim Care · 2004

review · Level V

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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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