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Specific transcriptional profiles have been correlated with two subgroups of 13q deletion based on the size of deleted area (short/biallelic versus wide/monoallelic).
In comparing the 468LN vs 468GFP genomes (Table 1), the median copy number increase was 3.84N (range 2.11 – 47.50), with a median size of an amplified region being 666 kb (range 8 bp–36 Mb), while the median copy number decrease was 1.23N (range 0.07 – 1.92), with a median size of deleted region of 292 kb (range 6 bp–31 Mb).
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An unexpected observation was the effect on skeletal size of deleting MMP14 from tendon.
Recent studies have shown that genomic regions ranging from several bp to more than 1 Mb can be deleted [ 96– 99], with deletion efficiency having an inverse correlation with the size of the deleted region [ 100].
Deletion patterns were ordered by NA subtype and by size of the deleted region within each NA subtype.
The size of the deleted sequences was over 300 bp on average.
This data was further compared to the size of each deleted protein.
A gel of lower percentage should be used if the expected size of the deleted DNA is bigger.
Thus, it is feasible to assume that the potential effect of the biallelic 13q losses on the prognosis could be masked either by the size of the deleted region or the inactivation of the remaining allele by other mechanisms.
The small difference in the size of the deleted material, 25 Kb, among our propositus and his affected sister could be attributed to a maternal polymorphism, recombination aneusomy, or microarray data normalization.
We observed that the majority of deletions was small in size that the number of deleted exons was less than 10 but duplications usually involved larger sizes.
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