Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.
Keywords: genetics; pediatrics and adolescent medicine; psychiatry.
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.