16p microtriplication case report associated with autistic spectrum disorder

Context: The literature on interstitial microtriplications at the 16p11.2 locus is scarce and unclear. We bring a rare case of microtriplications in the 16p11.2 locus associated with Syndromic Autistic Spectrum Disorder (ASD) and Intellectual Disability (ID) to stimulate discussion about this rare and complex condition. Case report: A.M.C., female, 10 years old, with history of agitation and aggression. Referred to neuropediatrician at 6 years old for behavioral change, socialization difficulties, agitation, heteroaggressiveness, developmental delay and school difficulty. She is not literate, has motor stereotypes when agitated, preferably plays with younger children, has tactile (water), taste (food) and sound sensory dysfunction, a low frustration threshold, difficulty in accepting routine changes and BMI of 14. Genetic evaluation showed interstitial triplication of 610Kb in the short arm of chromosome 16, raising diagnostic hypotheses of ASD and ID. Conclusions: Changes in microduplication in this locus are predisposing genetic factors for neurodevelopmental delays, ASD and ID. Changes in the number of 16p11.2 copies are believed to promote BMI index body change and brain changes in a dose-dependent manner on the phenotype. Brain changes include areas associated with reward, language and cognition. We bring this case to bring attention and discussion about to this rare condition.