Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

Autor:	Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	genetics pediatrics and adolescent medicine psychiatry Medicine Medicine (General) R5-920
Zdroj:	Clinical Case Reports, Vol 9, Iss 1, Pp 314-321 (2021)
Druh dokumentu:	article
ISSN:	2050-0904
DOI:	10.1002/ccr3.3523
Popis:	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.
Databáze:	Directory of Open Access Journals
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