Fragile X syndrome (FXS) is one of the most common inherited forms of intellectual
disability. It affects on average 1/4000 males and 1/7000 females. FXS was described for
the first time in 1943 by Martin and Bell. They reported a family with an inherited form
of mental retardation that was linked to a sex chromosome, hence mainly males were
affected. In 1969, the syndrome was linked to the X chromosome. Karyotyping of cells
from patients revealed a fragile site at the end of the long arm of the X chromosome at
position q27.3. Finally, the gene involved in FXS was discovered in 1991. It was called
fragile X mental retardation 1 (FMR1) gene (Verkerk et al., 1991).http://repub.eur.nl/res/pub/21244/bewerkt%20-%20101020_Levenga%2C%20Geertruida%20Josien.pdf
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