Table 1 Summary of the clinical features and molecular data of the reported patients with 3p26.3 microduplication encompassing only the CHL1 gene
From: De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
Features | Present case | Shoukier et al. [6] |
|---|---|---|
Dup. size | 0.85 Mb | 1.0 Mb |
Coordinates (hg19) | 125,931–975,649 | 48,914–1,054,209 |
Inheritance | de novo | maternal |
Sex and age at diagnosis | M, 2.3 years | F, 16 years |
Weight | 15 Kg (75–90th centile) | 57 Kg (50th centile) |
Height | 96 cm (90–97th centile) | 157 cm (25th centile) |
Head circumference | 52 cm (50–75th centile) | 53.4 cm (25th centile) |
DD/ID | + | + |
Language delay | + | + |
Seizure | - | + |
Hyperactivity/attention deficit | + | - |
Dysmorphisms | + | - |
Delivery | at term | at term |
Age at walking | 12 months | 15 months |
Age at first words | 20 months | 24 months |