Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties

Abstract

We report a mother and son with an interstitial deletion of chromosome 2: del(2)(p21p22.2). Both have mildly dysmorphic facial features and learning difficulties. This phenotype contrasts with two previously described cases with a similar deletion that presented with cyclopia and alobar holoprosencephaly.