The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism spectrum disorders, attention deficit hyperactivity disorders, obesity and congenital skeletal disorders. In our clinical study 73 patients were analyzed by chromosomal microarray, and results were confirmed by fluorescence in situ hybridization or polymerase chain reaction. All patients underwent detailed clinical evaluation, with special emphasis on behavioral symptoms. 16p rearrangements were identified in 10 individuals. We found six pathogenic deletions and duplications of the recurrent regions within 16p11.2: one patient had a deletion of the distal 16p11.2 region associated with obesity, while four individuals had duplications, and one patient a deletion of the proximal 16p11.2 region. The other four patients carried 16p variations as second-site genomic alterations, acting as possible modifying genetic factors. We present the phenotypic and genotypic results of our patients and discuss our findings in relation to the available literature.

第16号染色体（16p）的短臂富含节段重复，使其易感与多种表型的病因有关的反复，相互重排，包括智力残疾，言语障碍，发育协调障碍，自闭症谱系障碍，注意缺陷多动障碍，肥胖和先天性骨骼疾病。在我们的临床研究中，通过染色体微阵列分析了73例患者，并通过荧光原位证实了结果杂交或聚合酶链反应。所有患者均接受了详细的临床评估，尤其侧重于行为症状。在10个人中发现了16p重排。我们发现16p11.2内的复发区域有6个病原性缺失和重复：1例患者与肥胖相关的16p11.2远端区域缺失，而4例患者有重复，而16p11.2近端区域缺失。 。其他四名患者携带16p变异作为第二位基因组改变，可能是遗传因素的改变。我们介绍了我们患者的表型和基因型结果，并讨论了与现有文献相关的发现。