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Analysis of the nine characteristics identified three(simian crease,macro- orchidism,and hyperextensible joints)with low frequency and statistical insignificance which were therefore eliminated.With the use of the remaining six characteristics,if a score of 5 or more was used as the criterion for requesting fragile X testing,then close to 60%of these tests from our patient population could have been eliminated without missing any positive cases.The validity of our threshold score of 5 was subsequently confirmed among an additional six cases of fragile X syndrome.With our simplified six item clinical checklist,60%of testing could have been eliminated,thereby improving the cost effectiveness of fragile X testing and increasing the proportion of cases with positive results by threefold. |
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