The fragile X syndrome: History, diagnosis, and treatment

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

The fragile X (marker X) syndrome is a relatively common form of X-linked mental retardation. The karyotypic hallmark of the syndrome consists of a pronounced constriction near the terminus of the long arm of the X chromosome (fragile site), expressed in vitro only under conditions where thymidylate production is blocked (reduced folate levels and/or addition of methotrexate or 5-fluorodeoxyuridine). Clinical features associated with the syndrome include macroorchidism, large or prominent ears, and significant emotional dysfunction. In the present review, historical, diagnostic, biochemical, and clinical aspects of this syndrome are presented. Recent anecdotal reports of clinical improvement following high dose folic acid treatment will be discussed.

Original languageEnglish (US)
Pages (from-to)122-130
Number of pages9
JournalJournal of Developmental and Behavioral Pediatrics
Volume4
Issue number2
StatePublished - 1983
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Behavioral Neuroscience
  • Psychology(all)
  • Developmental and Educational Psychology

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