The fragile X syndrome--clinical overview.
The Fra(X) syndrome is the most common inherited cause of mental retardation. It is associated with an unusual form of X-linked inheritance where both men and women can be carriers. The "X-inactivation imprinting model" proposed by Laird et al currently offers one explanation of the unusual genetics. Recognition of clinical features and accurate cytogenetic diagnosis is important because of the prevalence of this disorder and the necessity and demand for genetic counseling. A combination of fra(X) cytogenetic studies and DNA-based linkage analysis for carrier detection and prenatal diagnosis is currently in use and is undergoing development and improvement.
Shapiro
L R
LR
Department of Pediatrics, Westchester County Medical Center, Valhalla, NY.
D002873:Chromosome Fragility; D004303:Dosage Compensation, Genetic; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis