Fragile X syndrome

Alessandra Terracciano, Pietro Chiurazzi, Giovanni Neri

Research output: Contribution to journalArticlepeer-review


Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research.

Original languageEnglish
Pages (from-to)32-37
Number of pages6
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume137 C
Issue number1
Publication statusPublished - Aug 15 2005


  • FMR1 gene
  • Mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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