The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
作者： Elaine Tam , Edwin J Young , Colleen A Morris , Christian R Marshall , Wayne Loo
DOI: 10.1002/AJMG.A.32360
关键词: Penetrance 、 Copy-number variation 、 Genetics 、 Population 、 Chromosome 、 Gene duplication 、 Williams syndrome 、 Chromosomal inversion 、 Differential diagnosis 、 Biology
摘要: Williams–Beuren syndrome (WBS) is caused by a ~1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as polymorphism but was also found in individuals with WBS-like features no deletion, suggesting it could cause clinical symptoms. We performed full clinical, developmental and genetic assessment two previously reported symptoms WBSinv-1 7q11.23 deletion. examined expression genes general population who have WBSinv-1. show that do not significant or psychological overlap WBS. In addition, 1.3 Mb duplication part velocardiofacial region on chromosome 22q11.2 one participant demonstrate normal from WBS region. These results suggest does we advise caution when diagnosing atypical presentation rare syndromes. Whole genome analysis may reveal unidentified copy number variants contribute to syndromic features.
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