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

Authors :
Arghir A
Papuc SM
Tutulan-Cunita AC
Erbescu A
Loddo S
Genovese S
Ciocca L
Goldoni M
Piscopo C
Bernardini L
Novelli A
Budisteanu M
Source :
Clinical case reports [Clin Case Rep] 2020 Nov 12; Vol. 9 (1), pp. 314-321. Date of Electronic Publication: 2020 Nov 12 (Print Publication: 2021).
Publication Year :
2020

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.<br />Competing Interests: None declared.<br /> (© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Details

Language :
English
ISSN :
2050-0904
Volume :
9
Issue :
1
Database :
MEDLINE
Journal :
Clinical case reports
Publication Type :
Academic Journal
Accession number :
33505690
Full Text :
https://doi.org/10.1002/ccr3.3523