Table 2. Summary of clinical details of patients previously reported with interstitial Xq duplications encompassing the Xq27.3–Xq28 region.
| Lachlan et al 200436 | Gecz et al 199935 | ||
|---|---|---|---|
| Patient 1 | Patient 2 | ||
| Duplication Xq region | Xq27.2–Xq28 | Xq27.1–Xq28 | Xq26–Xq28 |
| Inheritance | De novo | Maternal | Maternal |
| Duplication size | 7.7–8.8 Mb | 9.1–10.2 Mb | |
| Birth weight | 2830 g (<9th) | 2950 g (9th) | 2300 g |
| Developmental delay/MR | Severe | Moderate | Severe |
| Growth failure | ? | − | + |
| Microcephaly | + | + | + |
| Cryptorchidism | − | Unilateral | + |
| Obesity | ? | + | + |