Institutional screening for the fragile X syndrome

R. Hagerman, R. Berry, A. W. Jackson 3rd, J. Campbell, A. C. Smith and L. McGavran
Child Development Unit Children's Hospital, Denver, CO 80218.

Cytogenetic screening of mentally retarded patients for the fragile X (fra[X]) chromosome is helpful in identifying individuals who could benefit from genetic counseling and treatment. Previous studies have demonstrated a prevalence of the fra(X) syndrome as high as 6% in institutionalized retarded males. The physical and behavioral predictors of positive findings from cytogenetic testing have not been clarified, since many features of the fra(X) syndrome are found in other retarded populations. We performed physical and cytogenetic examinations on 440 patients at the Wheat Ridge (Colo) Regional Center. Twenty-eight (6.3%) demonstrated abnormal karyotypes. Seventeen of these were autosomal abnormalities or sex chromosome aneuploidies and 11 demonstrated the fra(X) chromosome (seven males, four females). In males, the physical features that were predictive of the fra(X) syndrome included the combination of ear lengths of 7.0 cm or greater, macroorchidism of 30 mL or greater, and the presence of hand calluses or lesions secondary to hand biting. The fra(X) chromosome was not seen in spastic quadriplegic patients. All seven males with the fra(X) syndrome were detected among the 141 ambulatory males who resided in the highest functioning units at this institution.