Inv dup8p

der(8p)

Fig. 4. The inv dup(8p) and the analphoid supernumerary chromosome +der(8p) are the two reciprocal products of the same abnormal recombination. Both fluorescent in situ hybridization images show the results obtained with the bacterial artificial chromosome (BAC) clone RP11-287P18 specific to the distal 8p olfactory receptor genes cluster. This clone gives signals on different chromosomes owing to high sequence identity of some of the olfactory receptor family members. Normal chromosome 8 and the inv dup(8p) are indicated by an arrow and an arrowhead, respectively. On the right image, the +der(8) appears completely covered by the signals. In the small squares, the green signals correspond to a single copy BAC clone (RP11-5E15) in distal 8p. The inv dup(8) lacks this signal, whereas the +der(8p) shows two opposite signals.

in the heterozygous state, renders misalignment and abnormal recombination more likely, just as it occurs in cytogenetically identifiable inversions (7). In other words, the inversion predisposes the individual to a susceptibility to the formation of what were considered de novo chromosome rearrangements (inv dup[8p] and the + der[8p]) (Fig. 3).

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