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.
