Fragile X checklist
1991; Wiley; Volume: 38; Issue: 2-3 Linguagem: Inglês
10.1002/ajmg.1320380223
ISSN1096-8628
AutoresRandi Hagerman, Khaled M. A. Amiri, Amy Cronister,
Tópico(s)Congenital heart defects research
ResumoAbstract 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%).
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