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10.1002/ajmg.1320510416.abs We have studied the neurocognitive deficit in premutation and full mutation women as compared to control women and to explore the relationship between those deficits and the incidence of emotional problems. Four groups of women were examined: two fragile X (fra(X))...
10.1002/ajmg.1320510434.abs The prevalence of the fragile X syndrome has been estimated by the results of population studies in which the disease was mostly diagnosed by cytogenetic examinations. To examine the reliability of the cytogenetic analysis for the estimation of the prevalence of the...
10.1002/ajmg.1320510415.abs Eighteen normally intelligent adult female fragile X carriers were tested with the “de Sonneville Visual Attention Tasks,” a computer‐based set of reaction‐time experiments, in order to assess different aspects of their attention capacity. The subject group was...
10.1002/ajmg.1320510459.abs We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar...
10.1002/ajmg.1320510411.abs Longitudinal declines in IQ among fragile X (fra(X)) males have been reported previously by several investigators. Remarkably little is known about longitudinal changes in IQ scores among fra(X) females. Previously, one cross‐sectional study showed a significant...
10.1002/ajmg.1320510413.abs Mothers of 60 girls with fragile X (fra(X)) and 58 controls were asked to fill out the Conners' Parent's Questionnaire to determine if this commonly used checklist would detect behavior problems in young girls with fra(X). The mean T‐scores were significantly...
10.1002/ajmg.1320510412.abs The recent claims for a decline in intelligence test performance in males and females with fragile‐X (fra(X)) syndrome have implications both clinically and in evaluating the underlying neurological basis. This commentary identifies three key issues in evaluating...
10.1002/ajmg.1320510424.abs Population based cytogenetic fra(X) surveys have not previously been reported from Denmark. In the present study we present an estimate of fra(X) based on 1) information from the Danish Central Cytogenetic Registry of diagnosed fra(X) males of all age groups in all...
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