Experimental approaches towards therapeutic interventions for fragile X syndrome Levenga, G.J. 2010-10-20 Doctoral Thesis

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