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 | – | – | – | – | – |