Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele)

Background Visible chromosome abnormalities have been commonly reported in patients with spina bifida (myelomeningocele), particularly when associated with other malformations. Newer technologies such as array comparative genomic hybridization (CGH) have made it possible to identify smaller (submicroscopic) DNA deletions/duplications, also referred to as copy number variants (CNVs). Submicroscopic CNVs have been identified as the cause of a...