Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute to chromosome 1 disease map, through the analysis of patients with chromosome 1 CNVs.

A cross-sectional study was performed using the array comparative genomic hybridization database of the Genetic Department of the Faculty of Medicine. Patients with pathogenic (P) or likely pathogenic (LP) CNVs on chromosome 1 were selected for the study. Clinical information was collected for all patients. Databases and related literature were used for genotype–phenotype correlation.

From a total of 2,516 patients included in the database we identified 24 patients (0.95%) with P (9 patients) or LP (15 patients) CNVs on chromosome 1. These CNVs account for 6.1% (24/392 CNVs) of the total P/LP CNVs in the database. Most common CNVs found were in the 1q21.1–1q21.2 region.

This study reinforces the association between chromosome 1 CNV and neurodevelopmental disorders and craniofacial dysmorphisms. Additionally, it also strengthened the idea that CNVs interpretation is not always a linear task due to the broad spectrum of variants that can be identified between benign and clearly pathogenic CNVs.

拷贝数变异 (CNV) 是基因组变异性的主要贡献者，并且 1 号染色体上 CNV 的存在是已知的发病原因。本研究的主要目的是通过对 1 号染色体 CNV 患者的分析，为 1 号染色体疾病图谱做出贡献。

使用医学院遗传系的阵列比较基因组杂交数据库进行横断面研究。选择在 1 号染色体上具有致病性 (P) 或可能致病性 (LP) CNV 的患者进行研究。收集所有患者的临床信息。数据库和相关文献用于基因型-表型相关性。

从纳入数据库的总共 2,516 名患者中，我们确定了 24 名患者（0.95%）在 1 号染色体上有 P（9 名患者）或 LP（15 名患者）CNV。这些 CNV 占总数的 6.1%（24/392 CNV）数据库中的 P/LP CNV。最常见的 CNV 位于 1q21.1-1q21.2 区域。

这项研究强化了 1 号染色体 CNV 与神经发育障碍和颅面畸形之间的关联。此外，它还强化了这样一种观点，即 CNV 的解释并不总是线性任务，因为可以在良性和明显致病的 CNV 之间识别出广泛的变异。