Posar Annio, Visconti Paola
IRCCS Istituto delle Scienze Neurologiche di Bologna, UOSI Disturbi dello Spettro Autistico, 40139 Bologna, Italy.
Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, 40126 Bologna, Italy.
Children (Basel). 2020 Oct 19;7(10):190. doi: 10.3390/children7100190.
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.
16号染色体短臂11.2区（16p11.2）的重复，尽管在普通人群中很少见，但却是已知的自闭症谱系障碍和其他神经发育障碍最常见的遗传病因之一。然而，关于这些患者神经行为表型的数据却很少。我们描述了一组16p11.2染色体重复儿童的样本，重点关注其神经行为表型。报告的这5例患者在特征和严重程度方面呈现出非常异质性的情况，从智商正常儿童的学习障碍到与智力残疾相关的自闭症谱系障碍不等。我们的病例报告强调了与16p11.2染色体重复相关的神经精神表型的广泛异质性。与其他被认为具有致病性的拷贝数变异类似，16p11.2染色体重复表型的广泛变异性可能与其他遗传和非遗传风险因素有关，这些因素往往难以识别，而且很可能因病例而异。
