A service for human chromosome studies in Saskatchewan.

A service has been developed in Saskatchewan to make available the results of studies of human chromosomes, the material being forwarded to the laboratory by local transport facilities. During the first year of this project chromosome studies were requested for five doubtful cases of trisomy-21 (two were found to be normal) and for 20 definite cases of trisomy-21 in young patients (two had translocations but the parents of both these children had normal karyotypes). Eleven confirmed cases of Turner's syndrome, two of Klinefelter's syndrome, and one each of the D and E syndromes were also studied. The largest group for which studies were requested comprised 36 patients with mental retardation; only two abnormal karyotypes were encountered in this group.