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Table 4 Summary of the anomalies found in HSCR patients subjected to the aCGH analysis

From: Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Featurespatients analyzedpatients with aberration/s detectedapatients with “true” aberration/sapatients with true aberration/s on DGVapatients with true aberration/s not on DGVa
HSCR form
RET mutation
5′ haplotype
 risk homo463123b177
 risk het11000
 no risk6 (3 + 3)5431
tot patients594231b2111
tot aberrations 77 (+  6 control regions)372512
  1. a excluded the four control regions and the region of trisomy for the two HSCR patients with associated Down syndrome. 7q21.11 del found in HSCR005 is included among those “not reported” (last column) although present on DGV database, but at a very low frequency
  2. b the sum of patients with “true” variants reported and not reported on DGV is different from the overall number of patients with “true” variants as one patient displayed two true aberrations, one on DGV and another one not on DGV