Table 1 Comparison of clinical and molecular findings associated with 3p26.3 duplication, including only the CHL1 gene, between the present study and previous studies
Subject | Present case | Shoukier et al. [26] | Palumbo et al. [27] |
|---|---|---|---|
Sex | F | M | F |
Age | 1 years and 4 months | 16 years | 2 years and 3 months |
Duplication size | 0.69 Mb | 1.0 Mb | 0.85 Mb |
Coordinates (hg19) | 380,685–1,067,787 | 48,914–1,054,209 | 125,931–975,649 |
Inheritance | Maternal | Maternal | De novo |
Pregnancy condition | Hypoxia | Normal | Normal |
Delivery | Term | Term | Term |
Family history | Maternal grandmother with schizophrenia | No family history | No family history |
Weight (g) | 9.95 kg (10–20th percentile) | 57 kg (50th percentile) | 15 kg (75–90th percentile) |
Height (cm) | 80.1 cm (20–50th percentile) | 157 cm (25th percentile) | 96 cm (90–97th percentile) |
Dysmorphic facial features | Mild hypertelorism, short mandible and protuberant forehead | No dysmorphic facial features | Minor dysmorphic facial features, including mild hypertelorism, down-slanting, long palpebral fissures with eversion of lateral third of lower eyelids, long philtrum, thin upper lip, and mildly prominent ear lobes |
Age at walking | 15 months | 15 months | 12 months |
Verbal DD | + | + | + |
Seizures | - | + | - |
DD/ID | + | + | + |
Feeding disorder | + | - | - |
ASD-related features | + | - | - |
Hyperactivity/attention deficit | - | - | + |
Brain MRI | Normal | Normal | Normal |
EEG | Normal | Multifocal sharp waves and sharp and slow-wave complexes | Normal |
Fragile X screening | Normal | Normal | Not reported |