The mechanisms resulting in the deletion are also highly variable, including simple deletions, unbalanced translocations, ring chromosomes or more complex chromosomal rearrangements.2,3 In the vast majority of the cases, the deletion includes SHANK3, a gene associated with several neuropsychiatric disorders including ID, ASD and schizophrenia.5–7 Rare interstitial deletions at 22q13 not encompassing SHANK3 were also observed in patients with features of PMS, suggesting the implication of additional genes in that region or a positional effect influencing SHANK3 expression.8,9. Here, SHANK3 is linked to atrial septal defect.