The female and the Fragile X. A study of 144 obligate female carriers

In the present report we summarize our data on 144 obligate female carriers. The clinical and cytogenetic data are reviewed and discussed. In more than 30% of heterozygotes mental development is borderline to subnormal, and they may also present psychiatric disturbances of which psychotic behaviour is the most frequent. Partial phenotypic expression is present in 28% of the carriers, and is more frequent in the mentally subnormal. Repeated fragile X screening remains negative in more than 50% of the patients. This results in great difficulties in accurate genetic counseling of the individual female at risk. In all females with partial clinical expression fragile X screening is positive. Fragile X carriers have a high fertility. A fourfold increase in twinning is observed and this may be an indication of a disturbed cortico-hypothalamic-hypophyseal axis.