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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

From: Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review

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
  1. M male, F female, + present, absent, DD developmental delay, ID intellectual disability