Prenatal diagnosis and molecular characterization of a novel locus for Dandy–Walker malformation on chromosome 7p21.3

We present three foetuses with Dandy–Walker malformation, intra-uterine growth restriction and multiple congenital abnormalities, who were studied by array-based comparative genomic hybridization and revealed a novel locus on chromosome 7p21.3. The association of pure chromosome 7p aberrations with Dandy–Walker malformation has rarely been reported. The present study suggests that the critical region associated with Dandy–Walker malformation is restricted to 7p21.3, including the cerebellar disease associated genes NDUFA4 and PHF14.

► We identified microdeletions/microduplication on chromosome 7p21.3 region in foetal patients with Dandy–Walker malformation.
► Our report suggests that the critical region on 7p associated with Dandy–Walker malformation is limited to the 7p21.3.
► We provide further insight into genetic cause for Dandy–Walker malformation.