Table I.
Genetic changes described in association with RES.
| Genetic changes described in association with RES | |
|---|---|
| Recurrence in two subsequent pregnancies | Pasquier et al., 2009 |
|
| |
| Consanguinity | Chemli et al., 2007 |
| Pasquier et al., 2009a | |
| Romanengo et al., 1997 | |
| Sandalcioglu et al., 2006 | |
| Toelle et al., 2002 | |
|
| |
| Interstitial deletion of 2q | Truwit et al., 1991 |
|
| |
| Unbalanced subtelomeric translocation: t(2p:10q) | Lespinasse et al., 2004 |
|
| |
| Tetrasomy 9p | di Vera et al., 2008 |
|
| |
| Microduplication 1p | Pasquier et al., 2009 |
|
| |
| Microduplication 7q | Pasquier et al., 2009 |
|
| |
| Complex rearrangement of 22q13.3 | Ramocki et al, 2011* |
*
The authors also reported partial RES in conjunction with HPE in two sisters with truncating mutations of ZIC2. However, the presence of RES was disputed by Guleria [2011] and could not be confirmed by our review.