Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series
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IRCCS Istituto delle Scienze Neurologiche di Bologna, UOSI Disturbi dello Spettro Autistico, 40139 Bologna, Italy
2
Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, 40126 Bologna, Italy
*
Author to whom correspondence should be addressed.
Children 2020, 7(10), 190; https://doi.org/10.3390/children7100190
Received: 17 August 2020
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Revised: 8 October 2020
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Accepted: 9 October 2020
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Published: 19 October 2020
(This article belongs to the Special Issue Neurodevelopmental Disorders: Diagnosis, Psychiatric Comorbidities and Treatment)
Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotype of these patients are few. We described a sample of children with duplication of chromosome 16p11.2 focusing on the neuro-behavioral phenotype. The five patients reported presented with very heterogeneous conditions as for characteristics and severity, ranging from a learning disorder in a child with normal intelligence quotient to an autism spectrum disorder associated with an intellectual disability. Our case report underlines the wide heterogeneity of the neuropsychiatric phenotypes associated with a duplication of chromosome 16p11.2. Similarly to other copy number variations that are considered pathogenic, the wide variability of phenotype of chromosome 16p11.2 duplication is probably related to additional risk factors, both genetic and not genetic, often difficult to identify and most likely different from case to case.
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Keywords:
autism spectrum disorder; intellectual disability; neuro-behavioral phenotype; genetics; 16p11.2 duplication
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MDPI and ACS Style
Posar, A.; Visconti, P. Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series. Children 2020, 7, 190. https://doi.org/10.3390/children7100190
AMA Style
Posar A, Visconti P. Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series. Children. 2020; 7(10):190. https://doi.org/10.3390/children7100190
Chicago/Turabian StylePosar, Annio, and Paola Visconti. 2020. "Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series" Children 7, no. 10: 190. https://doi.org/10.3390/children7100190
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