Palumbi Roberto, Ponzi Emanuela, Micella Stefania, Pascali Mara, Bucci Roberta, Gentile Mattia, Margari Lucia, Simone Marta
Child Neuropsychiatry Unit, Department of Translational Biomedicine and Neurosciences-DiBraiN, University of Bari Aldo Moro, Bari, Italy.
Medical Genetics Unit, Bari, Italy.
Front Genet. 2024 Aug 16;15:1429185. doi: 10.3389/fgene.2024.1429185. eCollection 2024.
Chromosome 16p13.11 microdeletion is a very rare copy number variant (CNV), associated with a clinical syndrome characterized by global development delay, neuropsychiatric conditions, facial dysmorphisms, microcephaly, gastroesophageal reflux disease, and congenital heart defects. The 16p13.11 locus is a very unstable genomic region, rich in low-copy number repeats, characterized by many homologous DNA sequences. Usually, the most common CNV of this region include microduplications/duplications, while the microdeletions are rare, and their clinical features are heterogeneous and poorly described so far.
In this paper, we report the genetic and the clinical features of a patient diagnosed with chromosome 16p13.11 microdeletion, and a short review of the literature on this topic. Our patient was characterized by several facial dysmorphic features, autistic symptoms and language development delay. The genetic evaluation revealed and interstitial deletion of the long arm of the chromosome 16, approximately of 1.5 Mb.
Interestingly, compared to previous cases, this patient was characterized by autistic symptoms, severe language and motor coordination disorder, without cognitive and cerebral malformations, frequently associated with this microdeletion syndrome.
16号染色体p13.11微缺失是一种非常罕见的拷贝数变异（CNV），与一种临床综合征相关，其特征为全面发育迟缓、神经精神疾病、面部畸形、小头畸形、胃食管反流病和先天性心脏缺陷。16p13.11位点是一个非常不稳定的基因组区域，富含低拷贝数重复序列，具有许多同源DNA序列。通常，该区域最常见的CNV包括微重复/重复，而微缺失很少见，其临床特征具有异质性，迄今为止描述甚少。
在本文中，我们报告了一名被诊断为16号染色体p13.11微缺失患者的遗传和临床特征，并对该主题的文献进行了简要回顾。我们的患者具有多种面部畸形特征、自闭症症状和语言发育迟缓。基因评估显示16号染色体长臂存在约1.5 Mb的间质性缺失。
有趣的是，与先前病例相比，该患者的特征为自闭症症状、严重的语言和运动协调障碍，无认知和脑部畸形，而这些常与该微缺失综合征相关。
