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Example sentences for: dup
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Probes were selected that flank known sites of genomic rearrangement based upon previous yeast artificial chromosome (YAC) and BAC/PAC mapping studies, together with the human sequence map available from the University of California at Santa Cruz (UCSC) Genome Browser [ 11 12 13 14 15 ] . Probes flanking the Prader-Willi/Angelman syndrome breakpoints, in addition to a characterized inv dup(15) rearrangement were selected to test the possibility that the pericentric inversion evolutionary breakpoint corresponded to a site of known human genomic instability (Figure 1).
Although human chromosome 15q11-q13 is noted for its exceptional instability, associated with human disease and chromosomal rearrangement, it is noteworthy that the orthologous site of rearrangement in the human genome did not correspond to one of the three major previously described common disease rearrangement breakpoints [ 11 12 21 22 ] . Similarly, probe RP11-88O16, distal of the previously characterized inv dup(15) breakpoint, and probes RP11-456J20 and RP11-758N13, which flank an additional inv dup(15) rearrangement breakpoint (S.
To mark the regions of low-copy repeats in human 15q11-q13, we utilized a probe derived from the donor locus of a major component of the PWS/AS breakpoint duplication clusters, PAC clone pDJ-778A2 which contains a significant portion of the HERC2 gene in 15q13 [ 33 ] . In addition, we selected probes corresponding to sites distal to the PWS/AS domain flanking a large inverted-duplicated 15 (inv dup(15)) supernumerary marker chromosome [ 23 ] . Specifically, probe RPCI-11-88O16 (abbreviated RP11-88O16) was selected for FISH analysis because it lies distal to the inversion-duplication event breakpoint and is linked to STS marker D15S1010 [ 23 24 ] . Upon reaching the PTR inversion breakpoint interval with probe RP11-40J8, flanking BACs were chosen from the November 2002 human genome assembly to establish the extent of the interval and define the boundaries of the interval.
15q-derived markers are inverted, duplicated and pseudodicentric structures and are known as inv dup(15) or idic(15).
One woman of normal stature had a karyotype analysis showing: 46,X, ?rec(X) dup(Xp) inv(X)(p11.
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