Clinical consult: developmental delay/fragile X syndrome

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.

Publication types

  • Review

MeSH terms

  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Female
  • Fragile X Syndrome* / diagnosis
  • Fragile X Syndrome* / genetics
  • Fragile X Syndrome* / therapy
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Primary Health Care