U-TYPE EXCHANGE IN A PARACENTRIC INVERSION AS A POSSIBLE MECHANISM OFORIGIN OF AN INVERTED TANDEM DUPLICATION OF CHROMOSOME-8

A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1-->12). Confirmation of the segments d uplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using th e chromosome specific probe y-19-1D (D85131), which maps to 8p21. Assa y of cathepsin B, which has been localised to 8p22, did not differ fro m controls with normal chromosomal constitution. DNA studies using the Defensin 1 gene probe, which maps to 8p23, showed a previously undete cted deletion of that segment. We propose that the inverted tandem dup lication/deletion arose as a single U-type exchange within an inversio n loop. (C) 1994 Wiley-Liss, Inc.