A 6-Year Experience Demonstrates the Utility of Screening for Both Cytogenetic and FMR-1 Abnormalities in Patients with Mental Retardation

Cytogenetic abnormalities were found in 81 of 2,757 cases (2.93%) screened for both cytogenetic and FMR-1 mutations because of mental retardation from 1992 to 1997. Of these, 38 (46.9%) were unbalanced autosomal abnormalities, 23 (28.4%) sex chromosomal abnormalities, and 20 (24.7%) balanced autosomal rearrangements. Five subtle deletions were found, of which three involved the long arm of chromosome 7 (7q22-q31.1). Although a high-resolution banding method was used for screening, we concluded that a banding level of 450-550, generally achieved in routine analysis, was sufficient to detect all of these abnormalities. Fragile-X DNA studies revealed CGG expansion mutations in 72 other cases (2.61%). Of the abnormals, 36 (50%) were males and 8 (11.1%) females with full mutations, and 12 (16.7%) were males and 16 (22.2%) females with premutations. Together, our cytogenetic and DNA screening gave 5.5% abnormal results. In this report, these findings are compared with similar surveys of 3,940 subjects from five...