Parents often not told of problem until they have more children
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Posted 2:19PM on Thursday, August 22, 2002
ATLANTA - Katie Clapp knew something was wrong with her newborn boy, but it took two years and dozens of doctor visits before he was diagnosed with Fragile X Syndrome, the most common inherited cause of mental retardation. By that time, Clapp had given birth to another child carrying Fragile X. <br>
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Clapp and others say they would have not had more children if they knew that they were passing on a genetic problem. <br>
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A study released Thursday by the Centers for Disease Control and Prevention is the first look at the long diagnosis process for Fragile X and whether all newborns should be screened for it. The syndrome affects only 50,000 people nationwide and can't be cured, but many parents said they wish they'd been told about it before having more children. <br>
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In a survey of 140 families with a Fragile X child, 40 percent of the parents had given birth to additional children before they learned they were carrying the mutation, which occurs on the X chromosome and disrupts production of a protein that's important for the brain's reasoning skills. <br>
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About one in four-thousand boys is born with Fragile X. Girls are many times more likely to carry the mutation, about one in 269, but not all display symptoms because females have two X chromosomes, not one as boys do.