Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)

We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20‐month‐old boy has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukodermia. He does not have mental retardation or any skeletal abnormalities. Family history was unremarkable. Cytogenetic studies demonstrated that the patient has a paracentric inversion (2)(q35q37.3); his parents have normal chromosomes. These findings suggest that the locus of the gene for Waardenburg syndrome type I may be at 2q35 or 2q37.3.