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首页> 外文期刊>Clinical dysmorphology >Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis
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Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis

机译：通过筛查而非定向诊断确定家族性威廉姆斯-布伦综合征

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摘要

Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome, mostly occurs sporadically. Although a few cases of familial WBS have been reported in the literature, molecular confirmation of the deletion has not been carried out in all of them. Here, we report on the eighth clinically and molecularly confirmed inherited WBS detected in a family with 'familial mental retardation.' A comprehensive screening approach to mental retardation that included stepwise karyotyping, assessment for fragile-X syndrome, subtelomeric rearrangements and known microdeletion/microduplication syndromes, and a genome-wide array-CGH study was applied. The father, the mother, and their daughter were all mentally handicapped with nonspecific clinical manifestations and dysmorphic features. The first child of the family died from multiple congenital anomalies. The father and his daughter, who had never been suspected to have WBS, were diagnosed as having a deletion of the WBS critical region. No other abnormalities were detected in the family. Unlike other previously reported cases, in which the disease was ascertained on the basis of clinical manifestations, the present report represents an example of the detection of cryptic chromosomal abnormalities in mental retardation patients by the stepwise application of high-throughput screening methods.
机译：Williams-Beuren综合征（WBS）是一种连续的基因缺失综合征，大多数情况下偶发。尽管文献中已经报道了几例家族性WBS，但并未在所有患者中进行缺失的分子确认。在这里，我们报告在一个有“家族性智力障碍”的家庭中检测到的第八个临床和分子证实的遗传WBS。应用了一种全面的智力障碍筛查方法，包括逐步核型分析，脆性X综合征评估，亚端粒重排和已知的微缺失/微复制综合征，以及全基因组阵列CGH研究。父亲，母亲和他们的女儿都患有非特异性的临床表现和畸形特征。家庭的第一个孩子死于多个先天性异常。从未被怀疑患有WBS的父亲和女儿被诊断出WBS关键区域被删除。在该家庭中未发现其他异常。与以前根据临床表现确定疾病的其他先前报道的病例不同，本报告代表了通过逐步应用高通量筛选方法检测智力低下患者隐性染色体异常的例子。

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