Scherer Stephen W, Gripp Karen W, Lucena Jaume, Nicholson Linda, Bonnefont Jean-Paul, Pérez-Jurado Luis A, Osborne Lucy R
Genetics and Genomic Biology Program, Sick Kids Hospital, Toronto, ON, M5G 1X8, Canada.
Hum Genet. 2005 Aug;117(4):383-8. doi: 10.1007/s00439-005-1325-9. Epub 2005 Jun 3.
The Williams-Beuren syndrome (WBS) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has been shown to occur frequently in parents of individuals with WBS, implying that it predisposes the region to the WBS deletion. Here we investigate two WBS families with multiple affected children, and show that in one family, both siblings have a deletion on a WBSinv-1 chromosome background that arose due to interchromosomal recombination. These results suggest that the two WBS deletions in this family were independent events, and that there is likely a significant increase in the risk of deletion of the WBS region associated with the WBSinv-1 chromosome. The rarity of multiplex WBS families would suggest that the overall risk of having a child with WBS is still relatively low; however, families with an existing member with WBS may choose to opt for WBSinv-1 testing and genetic counseling.
7q11.23区域的威廉姆斯-博伦综合征（WBS）区域存在多种基因组重排，其中一种WBSinv-1变异是一种倒位多态性。已证明WBSinv-1染色体在WBS患者的父母中频繁出现，这意味着它使该区域易发生WBS缺失。在这里，我们研究了两个有多个患病孩子的WBS家系，结果表明，在一个家系中，两个兄弟姐妹在WBSinv-1染色体背景上都有一个由于染色体间重组而产生的缺失。这些结果表明，这个家系中的两个WBS缺失是独立事件，并且与WBSinv-1染色体相关的WBS区域缺失风险可能显著增加。多个受累孩子的WBS家系很罕见，这表明生育患有WBS孩子的总体风险仍然相对较低；然而，已有成员患有WBS的家庭可能会选择进行WBSinv-1检测和遗传咨询。
