Clinical consult: developmental delay/fragile X syndrome.
review · Level V
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- Record sourced from PubMed, PMID 15331251.
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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.
Medical subject headings
- Developmental Disabilities
- Fragile X Syndrome
- Intellectual Disability