DIRAS3 and infertility disorder: In this case, although other potential mechanisms responsible for the phenotype may be hypothesized (unrecognized recessive condition, unrecognized microdeletion associated to isochromosome formation), some of the clinical features, as short stature and sterility, may be due to the imprinting of DIRAS3, since its overexpression may have a role in reducing growth and ovarian function (Xu et al., 2000).