Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation between chromosomes 5p and 15q. They presented a similar combination of clinical findings related to their genetic imbalances, but there were also phenotypic differences between them. Our analyses show that their clinical picture is mostly caused by the loss in 15q and not the gain in 5p, despite its much larger size. Our findings suggest that other genes, besides the IGF1R gene, in the 15q26.3 region, such as the CHSY1 gene, may have a great impact on the clinical picture of the syndrome. Our data emphasize the importance of detailed cytogenomic and clinical analyses for an accurate diagnosis, prognosis, and genetic counseling, providing an opportunity to improve genotype-phenotype correlations of patients with partial 5p duplication and 15q deletion syndromes.

中文翻译：

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来自 at(5;15)(p13.3;q26.3) 易位家族的三名患者的部分 5p 增益和 15q 缺失


文献报道了几例5p重复或15q缺失的患者，涉及不同的染色体区域和临床特征。在这里，我们描述了一个家族，其中 3 个个体的 5p15.33p13.3 增加了 30 Mb，15q26.3 减少了 2.5 Mb，这是由于染色体 5p 和 15q 之间的平衡家族易位所致。他们提出了与遗传失衡相关的相似临床结果组合，但它们之间也存在表型差异。我们的分析表明，他们的临床表现主要是由 15q 的丢失而不是 5p 的增加引起的，尽管 5p 的尺寸要大得多。我们的研究结果表明，除了 IGF1R 基因外，15q26.3 区域的其他基因，例如 CHSY1 基因，可能对该综合征的临床表现有很大影响。我们的数据强调了详细的细胞基因组学和临床分析对于准确诊断、预后和遗传咨询的重要性，为改善部分 5p 重复和 15q 缺失综合征患者的基因型-表型相关性提供了机会。