Microduplication of 3p26.3 Implicated in Cognitive Development

摘要

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 theCHL1andCNTN6genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. TheCHL1gene 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.