Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
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, microceph...
Main Authors: | 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 |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2021-01-01
|
Series: | Clinical Case Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/ccr3.3523 |
Similar Items
-
Re-emerging concepts of immune dysregulation in autism spectrum disorders
by: Alina Erbescu, et al.
Published: (2022-10-01) -
FURTHER-STUDIES ON CONSERVED LOCI IN XP11.22-]P11.21
by: Boyd, Y, et al.
Published: (1993) -
Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review
by: Aurora Arghir, et al.
Published: (2021-05-01) -
Novel DCX pathogenic variant in a girl with subcortical band heterotopia
by: Papuc Sorina Mihaela, et al.
Published: (2022-07-01) -
Genomic imbalances of chromosome 15 in patients with autistic features and global developmental delay
by: M. Budisteanu, et al.
Published: (2022-06-01)