Table 2.
Comparison of clinical features in atypical central 22q11.2 duplications and typical proximal duplications
| Type of duplication | Central 22q11.2 duplications (B‐D) | Proximal 22q11.2 duplications (A‐D) | |||
|---|---|---|---|---|---|
| Cohort of symptomatic patients | This study (n = 9, 6 families) | Literature (n = 6) | Decipher (n = 11) | TOTAL (n = 26) | Wenger et al. (2016) (n = 37) |
| Inherited | 7/7 tested | 4/4 tested | 8/9 | 19/20 inherited (95%) | |
| De novo | 0 | 0 | 1 | 1/20 (5%) | |
| Development delay and/or cognitive impairment | 8 | 3 | 10 | 21/26 (81%) | |
| Psychiatric/Behavior problems | 9 | 0 | 3 | 12/26 (46%) | |
| ASD | 7 | 0 | 2 | 9/26 (35%) | 14%–25% |
| Palatal defects | 1 | 2 | 0 | 3/26 (12%) | |
| Hearing impairment | 1 | 0 | 0 | 1/26 (4%) | 6/37 (16%) |
| Growth delay | 3 | 1 | 2 | 6/26 (23%) | |
| Hypotonia | 1 | 1 | 0 | 2/26 (8%) | 10/37 (27%) |
| Seizures | 1 | 0 | 3 | 4/26 (15%) | 7/37 (19%) |
| Heart defect | 0 | 0 | 2 | 2/26 (8%) | 9/37 (24%) |
| Urogenital anomaly | 0 | 1 | 1 | 2/26 (8%) | |
Only symptomatic individuals are included in this table. Central duplications cases included those between LCR22B and LCR22D described in this study, published in the literature (Diehl et al., 2015; Fan et al., 2007; Fernandez et al., 2009; Ou et al., 2008; Pebrel‐Richard et al., 2012; Tucker et al., 2014) and within the DECIPHER database with clinical information and one CNV (https://decipher.sanger.ac.uk). Typical proximal duplication cases included those 3 Mb in size between LCR22A and LCR22D (Wenger et al., 2016).