Fragile X Syndrome
Title: Fragile X Syndrome
Category: /Social Sciences/Psychology
Details: Words: 1406 | Pages: 5 (approximately 235 words/page)
Fragile X Syndrome
Category: /Social Sciences/Psychology
Details: Words: 1406 | Pages: 5 (approximately 235 words/page)
Introduction Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype.
The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (
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because the methylation status of the FMR1 gene is often not yet established in chorionic villi at the time of sampling. CVS, while a standard technique for prenatal diagnosis, may lead to a situation where follow-up amniocentesis is necessary to resolve an ambiguous result.
References Hagerman RJ, Silverman AC (1991): "Fragile X syndrome: Diagnosis, Treatment, and Research." Baltimore: Johns Hopkins University Press.
Warren ST, Nelson DL (1994): Advances in molecular analysis of fragile X syndrome. JAMA 271:536-542.