Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I

Prometaphase chromosome analysis was undertaken in a patient with familial tricho-rhino-phalangeal syndrome type I (TRPS-I). The patient had apparently normal chromosomes and produced counterevidence to part of Bühler's hypothesis. Thus, although some cases of typical TRPS-I may be derived from a deletion of 8q24.12, others might be caused by gene mutation or submicroscopic deletion involving the corresponding locus within the band 8q24.11----24.13.