Fragile X checklist

Randi J Hagerman, K. Amiri, A. Cronister

Research output: Contribution to journalArticle

124 Scopus citations

Abstract

A 13-item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed before we obtained cytogenetic results. Fifteen males were fra(X)-positive and the manifestations that differentiated fra(X)-positive and fra(X)-negative patients included perseverative speech, large or prominent ears, large testicles, and tactile defensiveness. The combination of physical and behavioral traits is helpful in suggesting the diagnosis and identifying high-risk patients. A total score of 16 or higher had a significant yield of fra(X)-positive patients (≥45%).

Original languageEnglish (US)
Pages (from-to)283-287
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume38
Issue number2-3
DOIs
StatePublished - 1991
Externally publishedYes

Keywords

  • macroorchidism
  • Martin-Bell syndrome
  • screening

ASJC Scopus subject areas

  • Genetics(clinical)

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