[Last advances in Fragile X chromosome syndrome].
The Fragile X syndrome is one of the most frequent forms of mental retardation. The responsible mutation is an unstable repetitive sequence. Since the mutation's discovery, the knowledge about the gene, its protein, function, expression, laboratory detection, phenotype-genotype relationship and risk of expansion, has enormously increased. This work pretends to review the recent advances in this syndrome in all its aspects.
Bañares
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Departamento de Diagnóstico Genético, Instituto Nacional de Genética Médica, Buenos Aires, Argentina.
D018899:CpG Islands / Q000235:genetics; D004247:DNA; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005786:Gene Expression Regulation; D005838:Genotype; D006801:Humans; D008297:Male; D008745:Methylation; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000502:physiology; D010641:Phenotype; D016601:RNA-Binding Proteins; D012091:Repetitive Sequences, Nucleic Acid; D012307:Risk Factors
D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human
Ultimos avances en el síndrome de Fragilidad del cromosoma X.