The role of the smaller BP1-BP2 CNVs in disease is unclear at this stage but has been linked to neurological disorders such autism and intellectual disability36 and is a putative region for CHD, with 15q11.2 deletions described in isolated cardiac defects such as TOF and coarctation of the aorta,15 as well as syndromic CHDs occurring in conjunction with dysmorphisms and psychomotor phenotypes.37 Here, IGFBP2 is linked to autism.