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U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

Mitchell, J. J. ; Vekemans, M. ; Luscombe, S. ; Hayden, M. ; Weber, Bernhard H. F. ; Richter, A. ; Sparkes, R. ; Kojis, T. ; Watters, G. ; Der Kaloustian, V. M.



Zusammenfassung

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 duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y-19-1D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to ...

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