SCREENING FOR MINUTE DELETIONS IN PATIENTS WITH SUSPECTED CRI-DU-CHAT SYNDROME AND APPARENTLY NORMAL KARYOTYPE

Measurement studies were carried out on the B-group chromosomes in three patients with suspected cri-du-chat syndrome, four karyotypically confirmed cases of the syndrome and three normal subjects. None of the propositi showed a detectable short-arm deletion. Within the four cases with obvious short arm deletion the amount of the deletion varies to a high degree. In addition to the technique of chromosome measurement proposed by other authors (e.g. Warburton et al., 1967, 1969; Miller et al., 1969), we present another method easely to apply for screening purposes in cases in which a deletion is not readily detectable, blind studies were unsuccessful, or when the amount of the deletion ought to be demonstrated. © 1969 Springer-Verlag.