Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.

Cytogenetic investigations by three different lymphocyte culture methods in 63 obligate and potential carriers of the fragile X [fra(X)] are reported. A difference was observed between normal and retarded carriers in the manifestation of the fra(X). An inverse relationship between percentage positive cells and age was demonstrated in normal carriers, whereas retarded carriers generally showed higher percentages at all ages. X-inactivation studies in retarded carriers compared with normal carriers showed a tendency towards a skewed inactivation pattern with an excess of early replicating fra(X) in both groups when carriers expressing high percentages of fra(X) positive cells were compared. In normal carriers with low percentage expression the tendency was apparently reversed. The relationship between the replication pattern of the fragile X and the mental status of the individual is more complicated than suggested by previous studies.