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. © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
Novelli, Antonio;
2021-01-01
Abstract
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. © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.File in questo prodotto:
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