1q21.1 copy number variation syndrome

1q21.1 copy number variation (deletion or duplication) syndromes are known for a highly variable phenotype especially concerning psychiatric problems. The genes on the red DNA strand represents the deleted, or duplicated, region. The downstream effects and interaction partners of the different genes are shown according to available knowledge. The breakpoints (chr1:146,527,987-147,394,444, GRCh37/hg19) are defined as given in Kendall et al. 2017: https://doi.org/10.1016/j.biopsych.2016.08.014.

1q21.1拷贝数变异（包括缺失或重复）综合症以表现型的高度可变性而著称，尤其在精神病学问题方面。红色DNA链上的基因代表了缺失或重复的区域。根据现有知识，不同基因的下游效应及其相互作用伙伴被展示。断点（chr1:146,527,987-147,394,444，GRCh37/hg19）的定义参照Kendall等人在2017年的研究：https://doi.org/10.1016/j.biopsych.2016.08.014。