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The IT 0; gene must be located in this small deleted segment; therefore, the FGISH confirmed that the IT 0; gene was located near the break-point of the original 2B/2S translocation chromosome in DAS15.
PCR products 500 to 596 bp in length were gel-purified and subjected to direct sequencing to identify pre-S deletion mutants with small deleted regions (< 100 bp in length).
Despite this, we consider that the small deleted region at chromosome 3p could be modifying the phenotype of our patient.
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A total of 77 probes partially covered the PHYB deletion while the >25 times smaller deleted region of MAX2 was represented 20 times in comparison.
This replicative advantage mechanism suggests that the smaller deleted mtDNA molecules are replicated more quickly, permitting mtDNA deletion accumulation (10).
For this patient, the larger CNV would still have been considered pathogenic, but the smaller deleted segment would have been assigned an uncertain clinical significance.
Buhler et al 88 concluded that the Langer Giedion syndrome is due to a deletion extending from 8q24.11 to 8q24.13, whereas trichorhinophalangeal syndrome Type 1 is caused by an even smaller deleted segment, namely, 8q24.12.
Although many tumours exhibited total or large interstitial deletions, we determined the smallest common deleted region to be at D7S480 7q31.11).
Nineteen cases (70%) showed LOH, and the interstitial deletions found in these tumours described two smallest common deleted regions, in which putative suppressor genes might reside.
Although deletions of varying sizes have been reported, the smallest region deleted in all patients contains at least seven genes.
Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases.
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