Annals of Indian Academy of Neurology
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Year : 2001  |  Volume : 4  |  Issue : 2  |  Page : 89-94

A Clinical Study Of Physical, Behavioural And Cognitive Phenotype In Fragile X Syndrome

Correspondence Address:
Sathish Chandra. R Girimaji

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Source of Support: None, Conflict of Interest: None

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Fragile X Syndrome is a common cause of mental retardation and the first disorder detected to have the novel trinucleotide repeat mutation. In this study, a detailed evaluation of physical, cognitive, and behavioral phenotype was carried out. The sample consisted of 16 subjects (13 male and 3 female) who were cytogenetically proven to have fragile X syndrome. A battery of standard tests was used to elicit the different facts of the phenotype. Results indicate that by and large, the pattern and prevalence of phenotypic characteristics are similar to what is reported in the literature. However, two unusual findings: one subject having severe microcephaly, and two sibs with rapidly progressive neurological disorder and described. Possibility of other etiologic factors in addition to fragile X syndrome could not be ruled out in these three subjects.

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