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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
  1. Dup duplication, M male, F female, + present, − absent, DD developmental delay, ID intellectual disability, NR not reported