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 language | English |
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Pages (from-to) | 283-287 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 38 |
Issue number | 2-3 |
DOIs | |
Publication status | Published - 1991 |
Externally published | Yes |
Keywords
- Martin-Bell syndrome
- macroorchidism
- screening
ASJC Scopus subject areas
- Genetics(clinical)