Cargando…
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype
Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are char...
Autores principales: | Milone, Roberta, Tancredi, Raffaella, Cosenza, Angela, Ferrari, Anna Rita, Scalise, Roberta, Cioni, Giovanni, Battini, Roberta |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620923/ https://www.ncbi.nlm.nih.gov/pubmed/34828266 http://dx.doi.org/10.3390/genes12111660 |
Ejemplares similares
-
De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability
por: Milone, Roberta, et al.
Publicado: (2021) -
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
por: Bertini, Veronica, et al.
Publicado: (2022) -
Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
por: Bertini, Veronica, et al.
Publicado: (2017) -
Parental Distress in the Time of COVID-19: A Cross-Sectional Study on Pediatric Patients with Neuropsychiatric Conditions during Lockdown
por: Sesso, Gianluca, et al.
Publicado: (2021) -
Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion
por: Milone, Roberta, et al.
Publicado: (2016)