Familial Short Stature Associated to Terminal Microdeletion of 15q26.3: Variable Phenotype not Involving the IGF1 Receptor Gene

Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 monosomy in a family with microdeletion of 15q26.3 not involving IGF1-R gene.