Role of CGH array in the diagnosis of autosomal recessive disease: A case of Ellis-van Creveld syndrome

What's already known about this topic?Array CGH permits high-resolution genome analysis and allows for the detection of submicroscopic chromosomal deletions and duplications.Today, this technology is frequently used in prenatal diagnosis. What does this study add?We describe for the second time in the literature a particular form of compound heterozygosity in Ellis-van Creveld syndrome.Array CGH can uncover monogenic autosomal recessive disorders.Array CGH can be helpful in unraveling complex prenatal cases.