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Table 1 Summary of reported patients with pure microduplications 21q22.13q22.2 (< 5 Mb)

From: Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Publication Size (Mb) Segregation DS phenotype APP DSCR1 DYRK1A DSCAM
This Case 2.56 De novo + +
Ronan et al., 2007 4.3 Inherited from affected mother + +
Weisfeld-Adams et al., 2016 2.78 De novo +
Eggermann et al., 2010 0.46 Inherited from healthy father +
Su et al., 2006 (Case 1) 4.4 Inherited from healthy mother
  1. Duplicated (+) and non-duplicated (−) classical DSCR genes (Delabar et al., [6]; Sinet et al., [1])