Purpose

To provide a detailed clinical and cytogenomic summary of individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p).

Methods

We enrolled 97 individuals with invdupdel(8p), del(8p), and dup(8p). Clinical and molecular data were collected to delineate and compare the clinical findings and rearrangement breakpoints. We included additional 5 individuals with dup(8p) from the literature for a total of 102 individuals.

Results

Eighty-one individuals had recurrent rearrangements of invdupdel(8p) (n = 49), del(8p)_distal (n = 4), del(8p)_proximal (n = 9), del(8p)_proximal&distal (n = 12), and dup(8p)_proximal (n = 7). Twenty-one individuals had nonrecurrent rearrangements. While all individuals had neurodevelopmental features, the frequency and severity of clinical findings were higher in individuals with invdupdel(8p), and with larger duplications. All individuals with GATA4 deletion had structural congenital heart defects; however, the presence of structural heart defects in some individuals with normal GATA4 copy number suggests there are other potentially contributing gene(s) on 8p.

Conclusion

Our study may inform families and health-care providers about the associated clinical findings and severity in individuals with chromosome 8p rearrangements, and guide researchers in investigating the underlying molecular and biological mechanisms by providing detailed clinical and cytogenomic information about individuals with distinct 8p rearrangements.

中文翻译：

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8p 细胞基因组疾病的临床和基因组特征

目的

提供具有 invdupdel(8p)、del(8p) 和 dup(8p) 的染色体 8p 重排的个体的详细临床和细胞基因组学总结。

方法

我们用 invdupdel(8p)、del(8p) 和 dup(8p) 招募了 97 名个体。收集临床和分子数据以描述和比较临床发现和重排断点。我们从文献中纳入了另外 5 个具有 dup(8p) 的个体，共 102 个个体。

结果

81 个人反复重排 invdupdel(8p) ( n  = 49)、del(8p)_distal ( n  = 4)、del(8p)_proximal ( n  = 9)、del(8p)_proximal&distal ( n  = 12) , 和 dup(8p)_proximal ( n  = 7)。21 个人有非复发性重排。虽然所有个体都具有神经发育特征，但临床发现的频率和严重程度在具有 invdupdel(8p) 的个体中更高，并且具有更大的重复。所有GATA4缺失的个体都有结构性先天性心脏缺陷；然而，一些GATA4正常的个体存在结构性心脏缺陷拷贝数表明在 8p 上还有其他潜在的贡献基因。

结论

我们的研究可能会告知家庭和医疗保健提供者有关染色体 8p 重排个体的相关临床发现和严重程度，并通过提供有关具有不同 8p 重排个体的详细临床和细胞基因组信息来指导研究人员调查潜在的分子和生物学机制。