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The Book consists of 25% questions, 25% discussion and 50% exam proctored class room mock test.
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The fragile X syndrome (FXS) is the most common inherited cause of mental retardation, and a premutation of the FMR1 gene is the most frequent cause of the condition. Our prior work suggested that this premutation is associated with increased, but nonspecific, rates of subclinical impairment. Here we present a broader examination of the association between the FMR1 CGG repeat and specific cognitive and behavioral phenotypes within a single, large cohort of subjects with FXS. We examined two sets of subjects with FXS: those whose FMR1 CGG repeat length is within the normal range, and those whose CGG repeat length is in the premutation range (22 to 54 repeats). Our results demonstrate that the rate of specific, impairing behavioral phenotypes is strongly affected by the CGG repeat length, both within the normal and within the premutation ranges. Importantly, the rate of some specific behaviors (e.g., irritability, social problems) even increases as the CGG repeat becomes longer within the premutation range, whereas others (e.g., hyperactivity, obsessive behavior) decline. The data also suggest that the effects of the CGG repeat length on behavioral phenotypes are not homogeneous; some types of behavior are more strongly associated with the CGG repeat length than others. In contrast, cognitive phenotypes were generally not significantly associated with the CGG repeat length. The lack of an association between the CGG repeat and cognitive phen

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