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We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the  CHL1  and  CNTN6  genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The  CHL1  gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient's phenotype.

Microduplication of 3p26.3 Implicated in Cognitive Development