Aims: Fragile-X syndrome (FXS) is the most common inherited form of intellectual disability; it is caused by an abnormal CGG-repeat expansion at the FMR1 gene. However, a few cases of girls with mutations in the FMR1 gene have been reported in the literature. In this study, we describe the clinical and genetic assessment of a family who exhibits the unusual coexistence of FXS, an 8p23.1 deletion, and balanced translocation t(7;10)(p10;q24) in multiple members, including a symptomatic girl with FXS.

中文翻译：

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脆弱X综合征，8p23.1缺失和平衡易位t（7; 10）（p10; q24）并存于一个家庭中。

目的：脆性X综合征（FXS）是智力障碍最常见的遗传形式。它是由FMR1基因上异常的CGG重复扩增引起的。但是，文献中报道了几例FMR1基因突变的女孩。在这项研究中，我们描述了一个家庭的临床和遗传学评估，该家庭在多个成员（包括有症状的女孩）中表现出FXS的异常共存，8p23.1缺失和平衡易位t（7; 10）（p10; q24）使用FXS。